Home |
Help |
Advanced search
2024-05-09 06:11:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003127 7892 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens spectrin, alpha, non-erythrocytic 1 (SPTAN1),
transcript variant 2, mRNA.
ACCESSION NM_003127
VERSION NM_003127.3 GI:306966129
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 7892)
AUTHORS Song,S., Maru,D.M., Ajani,J.A., Chan,C.H., Honjo,S., Lin,H.K.,
Correa,A., Hofstetter,W.L., Davila,M., Stroehlein,J. and Mishra,L.
TITLE Loss of TGF-beta adaptor beta2SP activates notch signaling and SOX9
expression in esophageal adenocarcinoma
JOURNAL Cancer Res. 73 (7), 2159-2169 (2013)
PUBMED 23536563
REMARK GeneRIF: loss of SPTAN1 switches TGF-beta signaling from tumor
suppression to tumor promotion by engaging Notch signaling and
activating SOX9 in esophageal adenocarcinoma.
REFERENCE 2 (bases 1 to 7892)
AUTHORS Hamdan,F.F., Saitsu,H., Nishiyama,K., Gauthier,J., Dobrzeniecka,S.,
Spiegelman,D., Lacaille,J.C., Decarie,J.C., Matsumoto,N.,
Rouleau,G.A. and Michaud,J.L.
TITLE Identification of a novel in-frame de novo mutation in SPTAN1 in
intellectual disability and pontocerebellar atrophy
JOURNAL Eur. J. Hum. Genet. 20 (7), 796-800 (2012)
PUBMED 22258530
REMARK GeneRIF: In-frame mutations in the C-terminus of SPTAN1 cause a
core set of manifestations that include severe intellectual
disability, generalized epilepsy, and pontocerebellar atrophy.
REFERENCE 3 (bases 1 to 7892)
AUTHORS Zhao,K.N., Masci,P.P. and Lavin,M.F.
TITLE Disruption of spectrin-like cytoskeleton in differentiating
keratinocytes by PKCdelta activation is associated with
phosphorylated adducin
JOURNAL PLoS ONE 6 (12), E28267 (2011)
PUBMED 22163289
REMARK GeneRIF: organization of a spectrin-like cytoskeleton is associated
with keratinocyte differentiation, and cytoskeleton disruption is
mediated by either PKCdelta(Thr505) phosphorylation associated with
phosphorylated adducin or due to reduction of endogenous adducin
REFERENCE 4 (bases 1 to 7892)
AUTHORS Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
Yusuf S, Gerstein HC, Engert JC and Anand S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 5 (bases 1 to 7892)
AUTHORS Cianci,C.D., Zhang,Z., Pradhan,D. and Morrow,J.S.
TITLE Brain and muscle express a unique alternative transcript of alphaII
spectrin
JOURNAL Biochemistry 38 (48), 15721-15730 (1999)
PUBMED 10625438
REFERENCE 6 (bases 1 to 7892)
AUTHORS Bennett,A.F., Hayes,N.V. and Baines,A.J.
TITLE Site specificity in the interactions of synapsin 1 with tubulin
JOURNAL Biochem. J. 276 (PT 3), 793-799 (1991)
PUBMED 1905928
REFERENCE 7 (bases 1 to 7892)
AUTHORS Frappier,T., Stetzkowski-Marden,F. and Pradel,L.A.
TITLE Interaction domains of neurofilament light chain and brain spectrin
JOURNAL Biochem. J. 275 (PT 2), 521-527 (1991)
PUBMED 1902666
REFERENCE 8 (bases 1 to 7892)
AUTHORS Davis,L.H. and Bennett,V.
TITLE Mapping the binding sites of human erythrocyte ankyrin for the
anion exchanger and spectrin
JOURNAL J. Biol. Chem. 265 (18), 10589-10596 (1990)
PUBMED 2141335
REFERENCE 9 (bases 1 to 7892)
AUTHORS Leto,T.L., Fortugno-Erikson,D., Barton,D., Yang-Feng,T.L.,
Francke,U., Harris,A.S., Morrow,J.S., Marchesi,V.T. and Benz,E.J.
Jr.
TITLE Comparison of nonerythroid alpha-spectrin genes reveals strict
homology among diverse species
JOURNAL Mol. Cell. Biol. 8 (1), 1-9 (1988)
PUBMED 3336352
REFERENCE 10 (bases 1 to 7892)
AUTHORS McMahon,A.P., Giebelhaus,D.H., Champion,J.E., Bailes,J.A.,
Lacey,S., Carritt,B., Henchman,S.K. and Moon,R.T.
TITLE cDNA cloning, sequencing and chromosome mapping of a non-erythroid
spectrin, human alpha-fodrin
JOURNAL Differentiation 34 (1), 68-78 (1987)
PUBMED 3038643
REMARK Erratum:[Differentiation 1987;34(3):241]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC359079.1, AB209860.1,
AL356481.16 and BC053521.1.
On Sep 15, 2010 this sequence version replaced gi:154759258.
Summary: Spectrins are a family of filamentous cytoskeletal
proteins that function as essential scaffold proteins that
stabilize the plasma membrane and organize intracellular
organelles. Spectrins are composed of alpha and beta dimers that
associate to form tetramers linked in a head-to-head arrangement.
This gene encodes an alpha spectrin that is specifically expressed
in nonerythrocytic cells. The encoded protein has been implicated
in other cellular functions including DNA repair and cell cycle
regulation. Mutations in this gene are the cause of early infantile
epileptic encephalopathy-5. Alternate splicing results in multiple
transcript variants.[provided by RefSeq, Sep 2010].
Transcript Variant: This variant (2) lacks an in-frame exon in the
coding region, compared to variant 1. The resulting isoform (2) is
shorter than isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AB209860.1, J05243.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-38 DC359079.1 1-38
39-3627 AB209860.1 1-3589
3628-3628 AL356481.16 79107-79107
3629-5532 AB209860.1 3591-5494
5533-5533 AL356481.16 98324-98324
5534-7209 AB209860.1 5496-7171
7210-7210 AL356481.16 113277-113277
7211-7886 AB209860.1 7173-7848
7887-7889 BC053521.1 7776-7778
7890-7892 AL356481.16 114299-114301
FEATURES Location/Qualifiers
source 1..7892
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q34.11"
gene 1..7892
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="spectrin, alpha, non-erythrocytic 1"
/db_xref="GeneID:6709"
/db_xref="HGNC:11273"
/db_xref="MIM:182810"
exon 1..139
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 37
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:181554749"
exon 140..379
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
CDS 143..7561
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="isoform 2 is encoded by transcript variant 2;
alpha-II spectrin; fodrin alpha chain; spectrin,
non-erythroid alpha chain; alpha-fodrin; spectrin,
non-erythroid alpha subunit; spectrin alpha chain,
non-erythrocytic 1"
/codon_start=1
/product="spectrin alpha chain, non-erythrocytic 1 isoform
2"
/protein_id="NP_003118.2"
/db_xref="GI:154759259"
/db_xref="CCDS:CCDS6905.1"
/db_xref="GeneID:6709"
/db_xref="HGNC:11273"
/db_xref="MIM:182810"
/translation="
MDPSGVKVLETAEDIQERRQQVLDRYHRFKELSTLRRQKLEDSYRFQFFQRDAEELEKWIQEKLQIASDENYKDPTNLQGKLQKHQAFEAEVQANSGAIVKLDETGNLMISEGHFASETIRTRLMELHRQWELLLEKMREKGIKLLQAQKLVQYLRECEDVMDWINDKEAIVTSEELGQDLEHVEVLQKKFEEFQTDMAAHEERVNEVNQFAAKLIQEQHPEEELIKTKQDEVNAAWQRLKGLALQRQGKLFGAAEVQRFNRDVDETISWIKEKEQLMASDDFGRDLASVQALLRKHEGLERDLAALEDKVKALCAEADRLQQSHPLSATQIQVKREELITNWEQIRTLAAERHARLNDSYRLQRFLADFRDLTSWVTEMKALINADELASDVAGAEALLDRHQEHKGEIDAHEDSFKSADESGQALLAAGHYASDEVREKLTVLSEERAALLELWELRRQQYEQCMDLQLFYRDTEQVDNWMSKQEAFLLNEDLGDSLDSVEALLKKHEDFEKSLSAQEEKITALDEFATKLIQNNHYAMEDVATRRDALLSRRNALHERAMRRRAQLADSFHLQQFFRDSDELKSWVNEKMKTATDEAYKDPSNLQGKVQKHQAFEAELSANQSRIDALEKAGQKLIDVNHYAKDEVAARMNEVISLWKKLLEATELKGIKLREANQQQQFNRNVEDIELWLYEVEGHLASDDYGKDLTNVQNLQKKHALLEADVAAHQDRIDGITIQARQFQDAGHFDAENIKKKQEALVARYEALKEPMVARKQKLADSLRLQQLFRDVEDEETWIREKEPIAASTNRGKDLIGVQNLLKKHQALQAEIAGHEPRIKAVTQKGNAMVEEGHFAAEDVKAKLHELNQKWEALKAKASQRRQDLEDSLQAQQYFADANEAESWMREKEPIVGSTDYGKDEDSAEALLKKHEALMSDLSAYGSSIQALREQAQSCRQQVAPTDDETGKELVLALYDYQEKSPREVTMKKGDILTLLNSTNKDWWKVEVNDRQGFVPAAYVKKLDPAQSASRENLLEEQGSIALRQEQIDNQTRITKEAGSVSLRMKQVEELYHSLLELGEKRKGMLEKSCKKFMLFREANELQQWINEKEAALTSEEVGADLEQVEVLQKKFDDFQKDLKANESRLKDINKVAEDLESEGLMAEEVQAVQQQEVYGMMPRDETDSKTASPWKSARLMVHTVATFNSIKELNERWRSLQQLAEERSQLLGSAHEVQRFHRDADETKEWIEEKNQALNTDNYGHDLASVQALQRKHEGFERDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQAWSSLGKRADQRKAKLGDSHDLQRFLSDFRDLMSWINGIRGLVSSDELAKDVTGAEALLERHQEHRTEIDARAGTFQAFEQFGQQLLAHGHYASPEIKQKLDILDQERADLEKAWVQRRMMLDQCLELQLFHRDCEQAENWMAAREAFLNTEDKGDSLDSVEALIKKHEDFDKAINVQEEKIAALQAFADQLIAAGHYAKGDISSRRNEVLDRWRRLKAQMIEKRSKLGESQTLQQFSRDVDEIEAWISEKLQTASDESYKDPTNIQSKHQKHQAFEAELHANADRIRGVIDMGNSLIERGACAGSEDAVKARLAALADQWQFLVQKSAEKSQKLKEANKQQNFNTGIKDFDFWLSEVEALLASEDYGKDLASVNNLLKKHQLLEADISAHEDRLKDLNSQADSLMTSSAFDTSQVKDKRDTINGRFQKIKSMAASRRAKLNESHRLHQFFRDMDDEESWIKEKKLLVGSEDYGRDLTGVQNLRKKHKRLEAELAAHEPAIQGVLDTGKKLSDDNTIGKEEIQQRLAQFVEHWKELKQLAAARGQRLEESLEYQQFVANVEEEEAWINEKMTLVASEDYGDTLAAIQGLLKKHEAFETDFTVHKDRVNDVCTNGQDLIKKNNHHEENISSKMKGLNGKVSDLEKAAAQRKAKLDENSAFLQFNWKADVVESWIGEKENSLKTDDYGRDLSSVQTLLTKQETFDAGLQAFQQEGIANITALKDQLLAAKHVQSKAIEARHASLMKRWSQLLANSAARKKKLLEAQSHFRKVEDLFLTFAKKASAFNSWFENAEEDLTDPVRCNSLEEIKALREAHDAFRSSLSSAQADFNQLAELDRQIKSFRVASNPYTWFTMEALEETWRNLQKIIKERELELQKEQRRQEENDKLRQEFAQHANAFHQWIQETRTYLLDGSCMVEESGTLESQLEATKRKHQEIRAMRSQLKKIEDLGAAMEEALILDNKYTEHSTVGLAQQWDQLDQLGMRMQHNLEQQIQARNTTGVTEEALKEFSMMFKHFDKDKSGRLNHQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRETENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAFDYVEFTRSLFVN
"
misc_feature 170..268
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 1"
misc_feature <176..586
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 269..286
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 272..583
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 2"
misc_feature 587..901
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 3"
misc_feature 590..1225
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 902..919
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 905..1219
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 4"
misc_feature 1223..1537
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 5"
misc_feature 1226..1858
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1538..1555
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1541..1855
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 6"
misc_feature 1544..2176
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1856..1873
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1859..2170
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 7"
misc_feature 2051..2053
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q13813.3); acetylation site"
misc_feature 2174..2488
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 8"
misc_feature 2177..2812
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 2489..2506
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 2492..2806
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 9"
misc_feature 2810..>3055
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeat; Region: Spectrin; pfam00435"
/db_xref="CDD:201223"
misc_feature 2810..3007
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 10"
misc_feature 3053..3211
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Src homology 3 domain of Alpha Spectrin; Region:
SH3_Alpha_Spectrin; cd11808"
/db_xref="CDD:212742"
misc_feature order(3068..3070,3074..3076,3083..3085,3149..3154,
3191..3193,3197..3202)
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212742"
misc_feature 3086..3088
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13813.3); phosphorylation site"
misc_feature 3137..3139
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13813.3); phosphorylation site"
misc_feature 3263..3265
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13813.3); phosphorylation site"
misc_feature 3326..3409
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 11"
misc_feature 3413..3625
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 12"
misc_feature 3416..4159
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 3668..3673
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by mu-calpain; propagated from
UniProtKB/Swiss-Prot (Q13813.3); cleavage site"
misc_feature 3668..3670
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (Q13813.3); phosphorylation site"
misc_feature 3764..3835
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 13"
misc_feature 3791..3793
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13813.3); phosphorylation site"
misc_feature 3836..3853
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 3839..4153
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 14"
misc_feature 3842..4477
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 4154..4171
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4157..4471
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 15"
misc_feature 4475..4789
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 16"
misc_feature 4478..5116
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 4697..4699
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q13813.3); acetylation site"
misc_feature 4790..4807
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4793..5110
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 17"
misc_feature 5081..5083
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q13813.3); phosphorylation site"
misc_feature 5114..5428
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeat; Region: Spectrin; pfam00435"
/db_xref="CDD:201223"
misc_feature 5114..5428
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 18"
misc_feature 5432..5746
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 19"
misc_feature 5435..6064
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 5747..5764
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 5750..6064
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 20"
misc_feature 5753..6388
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 6065..6082
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 6068..6385
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 21"
misc_feature 6296..6298
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q13813.3); acetylation site"
misc_feature 6413..6727
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 22"
misc_feature 6428..7078
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature order(6728..6736,6761..6769)
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 6755..7072
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13813.3);
Region: Spectrin 23"
misc_feature 7121..7327
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="EF-hand, calcium binding motif; A diverse
superfamily of calcium sensors and calcium signal
modulators; most examples in this alignment model have 2
active canonical EF hands. Ca2+ binding induces a
conformational change in the EF-hand motif, leading to...;
Region: EFh; cd00051"
/db_xref="CDD:28933"
misc_feature 7139..7327
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="EF-hand domain pair; Region: EF_hand_5; pfam13499"
/db_xref="CDD:205677"
misc_feature order(7148..7150,7154..7156,7160..7162,7181..7183,
7277..7279,7283..7285,7289..7291,7310..7312)
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28933"
misc_feature 7346..7555
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Ca2+ insensitive EF hand; Region: efhand_Ca_insen;
pfam08726"
/db_xref="CDD:149702"
misc_feature 7403..7405
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q13813.3); acetylation site"
variation 147
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149806602"
variation 169
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202115736"
variation 244..245
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:3209911"
variation 250
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371017342"
variation 260
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374578900"
variation 273
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368482631"
exon 380..505
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 447
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150793549"
exon 506..646
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 521
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:181402160"
variation 533
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142120579"
variation 546
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147900000"
variation 622
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201249013"
variation 639
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139943747"
exon 647..793
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 671
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145554993"
variation 727
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147708363"
variation 734
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149228783"
variation 745
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370807034"
exon 794..927
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 858
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371148094"
variation 897
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199777847"
variation 916
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138609094"
variation 917
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:151150353"
exon 928..1072
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 979
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200243332"
exon 1073..1227
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1101
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140076136"
variation 1115
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202099793"
variation 1153
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376280897"
variation 1208
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370695453"
variation 1215
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201947293"
exon 1228..1363
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1235
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372157740"
variation 1296
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227863"
variation 1303
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368321814"
variation 1329
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:77140770"
variation 1336
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150287999"
exon 1364..1465
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1384
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:137947812"
variation 1400
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142410041"
variation 1416
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11792065"
variation 1428
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368876195"
variation 1438
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17854811"
variation 1445
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144787939"
variation 1453
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201330964"
variation 1457
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200711426"
exon 1466..1603
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1471
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193111526"
variation 1472
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:77358650"
variation 1480
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:185614333"
variation 1491
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374524469"
variation 1492
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374478564"
variation 1494
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:149336930"
variation 1499
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200827350"
variation 1504
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:144590741"
variation 1518
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201948749"
variation 1547
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:377071017"
variation 1560
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200948972"
exon 1604..1714
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1653
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148727077"
variation 1654
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141424626"
variation 1662
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:375343189"
variation 1669
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201555611"
variation 1676
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:147444364"
variation 1713
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200973042"
exon 1715..1792
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1745
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:79650677"
variation 1790
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:371178746"
exon 1793..1948
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 1806
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139998823"
variation 1830
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377387388"
variation 1831
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373973880"
variation 1833
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201168391"
variation 1836
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376897533"
variation 1839
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:370304886"
variation 1852
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:115428827"
variation 1879
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143941068"
variation 1883
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373030015"
variation 1944
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377378707"
exon 1949..2153
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 2003
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:139880239"
variation 2095
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376957536"
variation 2097
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370062384"
variation 2099
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:191761343"
variation 2125
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374443036"
exon 2154..2335
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 2161
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149862852"
variation 2167
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145870898"
variation 2251
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369710857"
variation 2300
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:191761167"
variation 2305
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:10760566"
variation 2313
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374506067"
exon 2336..2579
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
STS 2339..2553
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/standard_name="D9S183E"
/db_xref="UniSTS:34291"
variation 2341
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:144000726"
variation 2351
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1129922"
variation 2363
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200241514"
variation 2367
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146412583"
variation 2380
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:367925255"
variation 2429
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372062686"
STS 2433..2511
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/standard_name="D9S1671E"
/db_xref="UniSTS:147341"
variation 2434
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:140939957"
variation 2466
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144649618"
variation 2468
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148258493"
variation 2485
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:34084388"
variation 2486
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199720383"
variation 2503
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:376861805"
exon 2580..2702
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 2629
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367686263"
variation 2642
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150338566"
variation 2690
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371776794"
exon 2703..2920
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 2743
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372785209"
variation 2752
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138101005"
variation 2786
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149528201"
variation 2790
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375111710"
variation 2842
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147466898"
variation 2895
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138275607"
variation 2914
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143939145"
exon 2921..3013
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3001
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377318517"
variation 3012
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371231421"
exon 3014..3148
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3022
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150731568"
variation 3030
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375623472"
variation 3031
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34654141"
variation 3053
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142405742"
exon 3149..3297
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3172
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202129574"
variation 3184
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150870424"
variation 3192
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370748662"
variation 3193
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140279996"
variation 3194
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144489058"
variation 3205..3206
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace=""
/replace="a"
/db_xref="dbSNP:34239011"
variation 3241
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374682395"
variation 3276
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368406599"
variation 3287
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374186379"
exon 3298..3357
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3302
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200872929"
variation 3319
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369531936"
variation 3328
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:372807389"
variation 3336
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199561983"
exon 3358..3556
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3390
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369611161"
variation 3442
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227865"
variation 3465
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140796315"
variation 3479
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143309753"
variation 3493
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201203115"
exon 3557..3661
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3583
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113157213"
variation 3590
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145516440"
variation 3628
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2227864"
variation 3660
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:141696651"
exon 3662..3685
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 3686..3721
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3686
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201136631"
variation 3688
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:945831"
exon 3722..3769
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 3770..3861
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3789
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:199588924"
variation 3808
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:372831978"
variation 3835
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142305088"
exon 3862..4006
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3928
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199902257"
variation 3945
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146153626"
variation 3946
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373988544"
variation 3991
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:117614529"
variation 3997
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370435310"
exon 4007..4188
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4041
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048236"
variation 4054
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143844598"
variation 4112
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147233101"
variation 4130
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:368517483"
variation 4168
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192041016"
variation 4169
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138827421"
variation 4188
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149367932"
exon 4189..4288
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4217
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150944593"
variation 4235
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144804532"
variation 4258
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148554113"
exon 4289..4486
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4339
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367635991"
variation 4341
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:143108250"
variation 4364
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:181391744"
variation 4366
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200180598"
variation 4381
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150097844"
variation 4402
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:146150071"
variation 4407
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140159000"
variation 4425
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143166100"
variation 4432
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369789806"
variation 4451
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373033857"
exon 4487..4633
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4497
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374394049"
variation 4552
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228951"
variation 4579
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373857333"
variation 4621
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201716851"
exon 4634..4737
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4666
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371100708"
variation 4669
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:139113273"
variation 4675
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:375026050"
variation 4677
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:374500733"
variation 4678
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367772623"
variation 4682
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145551982"
variation 4685
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149899658"
variation 4700
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374801331"
variation 4719
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182272113"
variation 4722
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145038571"
exon 4738..4900
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4772
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:373650761"
variation 4856
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376255893"
variation 4876
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370640807"
variation 4885
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:201587446"
exon 4901..5032
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4903
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:184863049"
variation 4921
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142161809"
variation 4927
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370609436"
variation 4998
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145913290"
exon 5033..5170
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5042
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:371679323"
variation 5077
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375199636"
variation 5085
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:374723711"
variation 5146
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:114745823"
variation 5150
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1129924"
exon 5171..5275
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5186
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141409593"
variation 5212
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1415568"
variation 5218
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369670539"
variation 5233
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373491498"
exon 5276..5484
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5298
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375195855"
variation 5333
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148294757"
variation 5396
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141483578"
variation 5403
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368402085"
variation 5412
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150427953"
variation 5428
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200641770"
variation 5435
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371055930"
variation 5436
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374625039"
variation 5468
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368949860"
exon 5485..5605
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5518
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146418243"
variation 5533
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2227862"
variation 5542
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142964132"
variation 5564
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:3750333"
variation 5587
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140191388"
variation 5596
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142234188"
variation 5600
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144458407"
exon 5606..5727
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5650
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:79569204"
variation 5672
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148402616"
variation 5679
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11543347"
exon 5728..5860
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5742
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199532672"
variation 5775
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200248814"
variation 5839
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150960451"
exon 5861..5959
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5902
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140353002"
variation 5917
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144435438"
variation 5918
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371687713"
variation 5947
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147815147"
exon 5960..6119
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5983
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141474640"
variation 6007
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372782253"
variation 6008
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142498180"
variation 6039
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145733227"
variation 6040
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373426828"
variation 6052
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11543345"
variation 6064
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143633226"
variation 6097
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138320965"
variation 6108
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11543346"
exon 6120..6196
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6169
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:142830725"
exon 6197..6406
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6208
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150801649"
variation 6230
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145129059"
variation 6238
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139799727"
variation 6277
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141602301"
variation 6286
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150902677"
variation 6304
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374511397"
variation 6316
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:367629442"
variation 6317
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201411901"
variation 6325
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:138305416"
variation 6338
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372214130"
variation 6350
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149458689"
variation 6361
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147132904"
variation 6362
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377253398"
variation 6397
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370102482"
exon 6407..6703
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6427
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370624702"
variation 6531
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373259652"
variation 6535
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:199930602"
variation 6544
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140418358"
variation 6580
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376208532"
variation 6603
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201330555"
variation 6615
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144289764"
variation 6624
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200834733"
variation 6625
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:72758823"
variation 6626
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371095095"
variation 6661
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370113838"
variation 6676
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:116778543"
exon 6704..6816
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6781
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372825476"
variation 6787
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112955915"
exon 6817..6834
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 6835..6889
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6838
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:151012062"
variation 6856
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140856932"
exon 6890..7086
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6890
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372779649"
variation 6891
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201693154"
variation 6953
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375244907"
variation 6994
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376500539"
variation 7012
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:76767787"
variation 7045
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:146535920"
exon 7087..7140
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 7141..7287
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 7217
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374893683"
variation 7255
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369792563"
variation 7273
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:75028792"
variation 7282
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200456378"
exon 7288..7435
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 7300
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147223529"
variation 7326
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145054594"
variation 7360
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138985089"
variation 7375
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148984013"
variation 7376
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143739246"
variation 7411
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201348505"
variation 7413
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148173166"
exon 7436..7892
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 7446
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141980692"
variation 7457
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147149360"
variation 7465
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374405583"
variation 7486
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138634476"
variation 7492
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142777123"
variation 7493
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199866550"
variation 7505
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200531434"
variation 7516
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228952"
variation 7518
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139070536"
variation 7519
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149318543"
variation 7523
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367776636"
variation 7542
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375016371"
variation 7545
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371177004"
variation 7546
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375649697"
variation 7553
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199569281"
variation 7578
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376572315"
variation 7587
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369663978"
variation 7588
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372819699"
variation 7602
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199588859"
variation 7605
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377163231"
variation 7607
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367989148"
variation 7620
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:75693914"
variation 7646
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:7021150"
variation 7672
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:74995813"
variation 7709
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113912557"
variation 7710
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:188688870"
STS 7711..7856
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/standard_name="SHGC-8025"
/db_xref="UniSTS:85777"
variation 7716
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11543348"
variation 7717
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1803171"
variation 7859
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:181176570"
variation 7860
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184532140"
polyA_signal 7867..7872
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
variation 7885
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:189104921"
polyA_site 7889
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="The 3'-most polyA site has not been determined.
This is an internal polyA site."
ORIGIN
tataaaagaggcggggcgcgcgcgtcgccgccactacccgctgcggagtgaacggtgtggagcggaggccgcggaggctcctcggtccttcagcacccctcggcccgacgcacccacgcccctcaccccccgagagccgaaaatggacccaagtggggtcaaagtgctggaaacagcagaggacatccaggagaggcggcagcaggtcctagaccgataccaccgcttcaaggaactctcaacccttaggcgtcagaagctggaagattcctatcgattccagttctttcaaagagatgctgaagagctggagaaatggatacaggaaaaacttcagattgcatctgatgagaattataaagacccaaccaacttgcagggaaagcttcagaagcatcaagcatttgaagctgaagtgcaggccaactcaggagccattgttaagctggatgaaactggaaacctgatgatctcagaagggcattttgcatctgaaaccatacggacccgtttgatggagctgcaccgccagtgggaattacttttggagaagatgcgagaaaaaggaatcaaactgctgcaggcccagaagttggtgcagtacttacgagaatgtgaggacgtgatggactggatcaatgacaaggaagcaattgttacttctgaagagctgggccaggatctggagcatgtagaggttttacagaagaaatttgaagagtttcaaacagatatggctgctcatgaagaaagagttaatgaagtgaaccagtttgctgccaaactcatacaggagcagcaccctgaggaggaactgatcaagactaagcaggatgaagtcaatgcagcctggcagcggctgaagggcctggctctgcagaggcaggggaagctctttggggcagcagaagttcagcgctttaacagggatgtggatgagactatcagttggattaaggaaaaggagcagttaatggcctctgatgattttggccgagacctggcaagtgttcaggctctgcttcggaagcacgagggtctggagagagatcttgctgctctagaagacaaggtcaaagccctgtgtgctgaggctgaccgcctgcaacagtcccaccctctgagtgcaacacagattcaagtgaagcgagaggaactgattacaaactgggagcagatccgcaccttggcggcagagagacatgcacggctcaatgattcatacaggcttcaacgcttccttgctgacttccgtgacctcaccagctgggtgactgagatgaaagccctcatcaatgcagatgagcttgccagtgatgtggctggggctgaagccctgctagatagacaccaagagcacaagggtgaaattgatgcccatgaagacagcttcaaatctgcagatgaatctggacaggcactgcttgctgctggtcactatgcctcagatgaagtgagggagaagctgaccgtcctttccgaggagagagcggcgctgctggagctgtgggagctgcgcaggcagcagtacgagcagtgcatggacctgcagctcttctaccgggacactgagcaggtggacaactggatgagcaagcaggaggcgttcctgttgaatgaagacttgggagattccttggatagtgtggaagcgcttcttaagaagcacgaagactttgagaaatcccttagtgcccaggaggaaaagattacagcattagatgaatttgcaaccaagctaattcagaacaaccactatgcaatggaagatgtggccactcgccgagatgctctgttgagccgccgcaatgcccttcacgagagagccatgcgtcgccgggcccagctagccgattctttccatctgcagcagtttttccgtgattctgatgagctcaagagttgggtcaatgagaagatgaaaactgccacagatgaagcttataaagatccatccaacctacaaggaaaagtacagaagcatcaggcttttgaggctgagctctcagcaaaccagagccgaattgatgccttggagaaagctggccaaaagctgattgatgtcaaccactatgccaaggatgaagtggcagctcgtatgaatgaggtgatcagtttgtggaagaaactgctagaggccactgaactgaaaggaataaagcttcgtgaagccaaccagcaacagcaatttaatcgcaatgttgaggatattgaattgtggctatatgaagtagaaggtcacttggcttcggatgattacggcaaagatcttaccaatgtgcagaacctccagaagaaacatgccctgctagaggcagatgtggctgctcaccaggaccgaattgatggcatcaccattcaggcccgccagttccaagatgctggccattttgatgcagaaaacatcaagaagaaacaggaagccctcgtggctcgctatgaggcactcaaggagcccatggttgcccggaagcagaagctggccgattctctgcggttgcagcagctcttccgggatgttgaggatgaggagacgtggattcgagagaaagagcccattgccgcatctaccaacagaggtaaggatttaattggggtccagaatctgctaaagaaacatcaagccttacaagcagaaattgctggacatgaaccacgcatcaaagcagttacacagaaggggaatgccatggtggaggaaggccattttgctgcagaggatgtgaaggccaagcttcacgagctgaaccaaaagtgggaggcactgaaagccaaagcttcccagcgtcggcaggacctggaggactctctgcaggcccagcagtactttgctgatgctaacgaggctgaatcctggatgcgggagaaggaacccattgtgggcagcactgactatggcaaggacgaagactctgctgaggctctactgaagaaacacgaagctttgatgtcagatctcagtgcctacggcagcagcatccaggctttgcgagaacaagcacagtcctgccggcaacaagtggcccccacggatgatgagactgggaaggagctggtcttggctctctacgactatcaggagaagagtccccgagaggtcaccatgaagaagggagatatccttaccttactcaacagcaccaacaaggattggtggaaagtggaagtgaacgatcgtcagggttttgtgccggctgcgtacgtgaagaaattggaccccgcccagtcagcctcccgggagaatctcctggaggagcaaggcagcatagcactgcggcaggagcagattgacaatcagacacgcataactaaggaggccggcagtgtatctctgcgtatgaagcaggtggaagaactatatcattctctgctggaactgggtgagaagcgtaaaggcatgttggagaagagttgcaagaagtttatgttgttccgtgaagcgaatgaactacagcaatggatcaatgagaaggaagccgctctgacaagtgaggaggtcggagcagacttggagcaggttgaggtgctccagaagaagtttgatgacttccagaaggacctgaaggccaatgagtcacggttgaaggacattaacaaggtagctgaagacctggagtctgaaggtctcatggcagaggaggtgcaggctgtgcaacaacaggaagtgtatggcatgatgcccagggatgaaactgattccaagacagcctccccgtggaagtctgctcgtctgatggttcacaccgtggccacctttaattccatcaaggagctgaatgagcgctggcggtccctacagcagctggccgaggaacggagccagctcttgggcagcgcccatgaagtacagaggttccacagagatgctgatgaaaccaaagaatggattgaagagaagaatcaagctctaaacacagacaattatggacatgatctcgccagtgtccaggccctgcaacgcaagcatgagggcttcgagagggaccttgcggctctcggtgacaaggtaaactcccttggtgaaacagcagagcgcctgatccagtcccatcccgagtcagcagaagacctgcaggaaaagtgcacagagttaaaccaggcctggagcagcctggggaaacgtgcagatcagcgcaaggcaaagttgggtgactcccacgacctgcagcgcttccttagcgatttccgggacctcatgtcttggatcaatggaatacgggggttggtgtcctcagatgagctagccaaggatgtcaccggagctgaggcattgctggagcgacaccaggaacaccggacagaaatcgatgccagggctggcactttccaggcatttgagcagtttggacagcagctgttggctcacggacactatgccagccctgagatcaagcagaaacttgatattcttgaccaggagcgtgcagacctggagaaggcctgggttcagcgcaggatgatgctggatcagtgccttgaactgcagctgttccatcgggactgtgagcaagctgagaactggatggctgcccgggaggccttcttgaataccgaagacaaaggagactcactggacagcgtagaggctctgatcaaaaaacatgaagactttgacaaagcgattaacgtccaggaagagaagattgctgctctgcaggcctttgccgaccagctcatcgctgccggccattatgccaagggagacatttctagccggcgcaatgaggtcttggacaggtggcgacgtctgaaagcccagatgattgagaaaaggtcaaagctaggagaatctcaaaccctccaacagttcagccgggatgtggatgagattgaggcttggatcagtgaaaaattgcaaacagcgagtgatgagtcgtacaaggatcccaccaacatccagagcaagcaccagaagcaccaggcttttgaagcagagctgcatgccaacgctgaccggatccgtggggttatcgacatgggcaactccctcattgaacgtggagcctgtgccggcagtgaggatgctgtcaaggcccgcctggctgccttagctgaccagtggcagttcttggtgcaaaagtcagcggaaaagagccagaaactgaaagaagccaacaagcagcagaacttcaacacagggatcaaggactttgacttctggctgtctgaggtggaggccctgctggcatccgaagattatggcaaagacctggcttctgtgaacaacctgctgaaaaagcatcaactgctggaagcagatatatctgcccatgaggatcgcctgaaggacctgaacagccaggcagacagcctgatgaccagcagtgccttcgacacctcccaagtaaaggacaagagggacaccatcaacgggcgcttccagaagatcaagagcatggcggcctcccggcgagccaagctgaatgaatcccatcgcctgcaccagttcttccgggacatggatgacgaggagtcctggatcaaggagaagaagctgctggtgggctcagaggactacggccgggacctaaccggcgtgcagaacctgaggaagaagcacaagcggctggaagcagaactggctgcgcatgagccggctattcagggtgtcctggacactggcaagaagctgtccgatgacaacaccatcgggaaagaggagatccagcagcggctggcgcagtttgtggagcactggaaagagctgaagcagctggcagctgcccggggtcagcggctggaagagtccttggaatatcagcagtttgtagccaatgtggaagaggaagaagcctggatcaatgagaaaatgaccctggtggccagcgaagattatggcgacactcttgccgccatccagggcttactgaagaaacatgaagcttttgagacagacttcaccgtccacaaggatcgcgtgaatgatgtctgcaccaatggacaagacctcattaagaagaacaatcaccatgaggagaacatctcttcaaagatgaagggcctgaacgggaaagtgtcagacctggagaaagctgcagcccagagaaaggcgaagctggatgagaactcggccttccttcagttcaactggaaggcggacgtggtggagtcctggatcggtgaaaaggagaacagcttgaagacagatgattatggccgagacctgtcttctgtgcagacgctcctcaccaaacaggaaacttttgacgctgggctgcaggccttccagcaggaaggcattgccaacatcactgccctcaaagatcagcttctcgccgccaaacacgttcagtccaaggccatcgaggcccggcacgcctccctcatgaagaggtggagccagcttctggccaactcagccgcccgcaagaagaagcttctggaggctcagagtcacttccgcaaggtggaggacctcttcctgaccttcgccaaaaaggcttctgccttcaacagctggtttgaaaatgcagaggaggacttaacagaccccgtgcgctgcaactccttggaagaaatcaaagctttgcgcgaggcccacgacgccttccgctcctccctcagctctgcccaggctgacttcaaccagctggccgagctggaccgccagatcaagagcttccgcgtagcctccaacccctacacctggtttaccatggaggccctggaggagacctggaggaacctacagaaaatcatcaaggagagggagctggagctgcagaaggaacagcggcggcaggaggagaacgacaagctgcgccaggagtttgcccagcacgccaacgccttccaccagtggatccaagagaccaggacatacctcctcgatgggtcctgtatggtggaagagtcggggaccctcgaatcccagcttgaagctaccaaacgcaagcaccaggaaatccgagccatgagaagtcagctcaaaaagatcgaggacctgggggccgccatggaggaggccctcatcctggacaacaagtacacggagcacagcaccgtgggcctcgcccagcagtgggaccagctggaccagctgggcatgcgcatgcagcacaacctggagcagcagatccaggccaggaacacaacaggtgtgactgaggaggccctcaaagaattcagcatgatgtttaaacactttgacaaggacaagtctggcaggctgaaccatcaggagttcaaatcttgcctgcgctccctgggctatgacctgcccatggtggaggaaggggaacctgaccctgagttcgaggcaatcctggacacggtggatccgaacagagatggccatgtctccttgcaagaatacatggctttcatgatcagccgcgaaactgagaacgtcaagtccagcgaggagattgagagcgccttccgggccctcagctcagagggaaagccttacgtgaccaaggaggagctctaccagaacctgacccgggaacaagccgactactgcgtctcccacatgaagccctacgtggacggcaagggccgcgagctccccaccgcgttcgactacgtggagttcacccgctcgcttttcgtgaactgagccactccctgggtcacccacccctcgctgcttgccctgcgtcgccttgctgcatgtccgctcctctgtgtgctctcactttccactgtaaccttaagcctgcttagcttggaataagacttaggagaaaatggtgcttcactaacccgcttccggtccagtcacaatcatcatgtcactgtggggacccagatctgtgtcttgaagcagctgccctcattccgacttcagaaaatcgaagcagctggctcctccccttgttctctctcccaccctcccccaaatctgttttcatgtaaaagacaaataaatgatgacttcccccaaagct
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6709 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
GeneID:6709 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: TAS
GeneID:6709 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:6709 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:6709 -> Molecular function: GO:0005516 [calmodulin binding] evidence: IEA
GeneID:6709 -> Molecular function: GO:0030507 [spectrin binding] evidence: IEA
GeneID:6709 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
GeneID:6709 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:6709 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:6709 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:6709 -> Biological process: GO:0051693 [actin filament capping] evidence: IEA
GeneID:6709 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:6709 -> Cellular component: GO:0005916 [fascia adherens] evidence: IEA
GeneID:6709 -> Cellular component: GO:0008091 [spectrin] evidence: TAS
GeneID:6709 -> Cellular component: GO:0015630 [microtubule cytoskeleton] evidence: IDA
GeneID:6709 -> Cellular component: GO:0016020 [membrane] evidence: TAS
GeneID:6709 -> Cellular component: GO:0016328 [lateral plasma membrane] evidence: IEA
GeneID:6709 -> Cellular component: GO:0030018 [Z disc] evidence: IEA
GeneID:6709 -> Cellular component: GO:0032437 [cuticular plate] evidence: IEA
GeneID:6709 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.