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2024-04-27 01:50:12, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001195532 7832 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens spectrin, alpha, non-erythrocytic 1 (SPTAN1),
transcript variant 3, mRNA.
ACCESSION NM_001195532
VERSION NM_001195532.1 GI:306966131
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 7832)
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 7832)
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 7832)
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 7832)
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 7832)
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 7832)
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 7832)
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 7832)
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 7832)
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 7832)
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, AB191262.1,
BC053521.1 and AL356481.16.
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 (3) lacks two in-frame exons in
the coding region, compared to variant 1. The encoded isoform (3)
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 :: AB191262.1, BC053521.1 [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
1-35 DC359079.1 1-35
36-7655 AB191262.1 1-7620
7656-7829 BC053521.1 7605-7778
7830-7832 AL356481.16 114299-114301
FEATURES Location/Qualifiers
source 1..7832
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q34.11"
gene 1..7832
/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..7501
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="isoform 3 is encoded by transcript variant 3;
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
3"
/protein_id="NP_001182461.1"
/db_xref="GI:306966132"
/db_xref="GeneID:6709"
/db_xref="HGNC:11273"
/db_xref="MIM:182810"
/translation="
MDPSGVKVLETAEDIQERRQQVLDRYHRFKELSTLRRQKLEDSYRFQFFQRDAEELEKWIQEKLQIASDENYKDPTNLQGKLQKHQAFEAEVQANSGAIVKLDETGNLMISEGHFASETIRTRLMELHRQWELLLEKMREKGIKLLQAQKLVQYLRECEDVMDWINDKEAIVTSEELGQDLEHVEVLQKKFEEFQTDMAAHEERVNEVNQFAAKLIQEQHPEEELIKTKQDEVNAAWQRLKGLALQRQGKLFGAAEVQRFNRDVDETISWIKEKEQLMASDDFGRDLASVQALLRKHEGLERDLAALEDKVKALCAEADRLQQSHPLSATQIQVKREELITNWEQIRTLAAERHARLNDSYRLQRFLADFRDLTSWVTEMKALINADELASDVAGAEALLDRHQEHKGEIDAHEDSFKSADESGQALLAAGHYASDEVREKLTVLSEERAALLELWELRRQQYEQCMDLQLFYRDTEQVDNWMSKQEAFLLNEDLGDSLDSVEALLKKHEDFEKSLSAQEEKITALDEFATKLIQNNHYAMEDVATRRDALLSRRNALHERAMRRRAQLADSFHLQQFFRDSDELKSWVNEKMKTATDEAYKDPSNLQGKVQKHQAFEAELSANQSRIDALEKAGQKLIDVNHYAKDEVAARMNEVISLWKKLLEATELKGIKLREANQQQQFNRNVEDIELWLYEVEGHLASDDYGKDLTNVQNLQKKHALLEADVAAHQDRIDGITIQARQFQDAGHFDAENIKKKQEALVARYEALKEPMVARKQKLADSLRLQQLFRDVEDEETWIREKEPIAASTNRGKDLIGVQNLLKKHQALQAEIAGHEPRIKAVTQKGNAMVEEGHFAAEDVKAKLHELNQKWEALKAKASQRRQDLEDSLQAQQYFADANEAESWMREKEPIVGSTDYGKDEDSAEALLKKHEALMSDLSAYGSSIQALREQAQSCRQQVAPTDDETGKELVLALYDYQEKSPREVTMKKGDILTLLNSTNKDWWKVEVNDRQGFVPAAYVKKLDPAQSASRENLLEEQGSIALRQEQIDNQYHSLLELGEKRKGMLEKSCKKFMLFREANELQQWINEKEAALTSEEVGADLEQVEVLQKKFDDFQKDLKANESRLKDINKVAEDLESEGLMAEEVQAVQQQEVYGMMPRDETDSKTASPWKSARLMVHTVATFNSIKELNERWRSLQQLAEERSQLLGSAHEVQRFHRDADETKEWIEEKNQALNTDNYGHDLASVQALQRKHEGFERDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQAWSSLGKRADQRKAKLGDSHDLQRFLSDFRDLMSWINGIRGLVSSDELAKDVTGAEALLERHQEHRTEIDARAGTFQAFEQFGQQLLAHGHYASPEIKQKLDILDQERADLEKAWVQRRMMLDQCLELQLFHRDCEQAENWMAAREAFLNTEDKGDSLDSVEALIKKHEDFDKAINVQEEKIAALQAFADQLIAAGHYAKGDISSRRNEVLDRWRRLKAQMIEKRSKLGESQTLQQFSRDVDEIEAWISEKLQTASDESYKDPTNIQSKHQKHQAFEAELHANADRIRGVIDMGNSLIERGACAGSEDAVKARLAALADQWQFLVQKSAEKSQKLKEANKQQNFNTGIKDFDFWLSEVEALLASEDYGKDLASVNNLLKKHQLLEADISAHEDRLKDLNSQADSLMTSSAFDTSQVKDKRDTINGRFQKIKSMAASRRAKLNESHRLHQFFRDMDDEESWIKEKKLLVGSEDYGRDLTGVQNLRKKHKRLEAELAAHEPAIQGVLDTGKKLSDDNTIGKEEIQQRLAQFVEHWKELKQLAAARGQRLEESLEYQQFVANVEEEEAWINEKMTLVASEDYGDTLAAIQGLLKKHEAFETDFTVHKDRVNDVCTNGQDLIKKNNHHEENISSKMKGLNGKVSDLEKAAAQRKAKLDENSAFLQFNWKADVVESWIGEKENSLKTDDYGRDLSSVQTLLTKQETFDAGLQAFQQEGIANITALKDQLLAAKHVQSKAIEARHASLMKRWSQLLANSAARKKKLLEAQSHFRKVEDLFLTFAKKASAFNSWFENAEEDLTDPVRCNSLEEIKALREAHDAFRSSLSSAQADFNQLAELDRQIKSFRVASNPYTWFTMEALEETWRNLQKIIKERELELQKEQRRQEENDKLRQEFAQHANAFHQWIQETRTYLLDGSCMVEESGTLESQLEATKRKHQEIRAMRSQLKKIEDLGAAMEEALILDNKYTEHSTVGLAQQWDQLDQLGMRMQHNLEQQIQARNTTGVTEEALKEFSMMFKHFDKDKSGRLNHQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRETENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAFDYVEFTRSLFVN
"
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 3353..3565
/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 3356..4099
/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 3608..3613
/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 3608..3610
/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 3704..3775
/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 3731..3733
/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 3776..3793
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 3779..4093
/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 3782..4417
/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 4094..4111
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4097..4411
/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 4415..4729
/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 4418..5056
/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 4637..4639
/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 4730..4747
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 4733..5050
/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 5021..5023
/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 5054..5368
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Spectrin repeat; Region: Spectrin; pfam00435"
/db_xref="CDD:201223"
misc_feature 5054..5368
/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 5372..5686
/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 5375..6004
/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 5687..5704
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 5690..6004
/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 5693..6328
/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 6005..6022
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 6008..6325
/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 6236..6238
/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 6353..6667
/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 6368..7018
/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(6668..6676,6701..6709)
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 6695..7012
/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 7061..7267
/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 7079..7267
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="EF-hand domain pair; Region: EF_hand_5; pfam13499"
/db_xref="CDD:205677"
misc_feature order(7088..7090,7094..7096,7100..7102,7121..7123,
7217..7219,7223..7225,7229..7231,7250..7252)
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28933"
misc_feature 7286..7495
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="Ca2+ insensitive EF hand; Region: efhand_Ca_insen;
pfam08726"
/db_xref="CDD:149702"
misc_feature 7343..7345
/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..3496
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3330
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369611161"
variation 3382
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2227865"
variation 3405
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140796315"
variation 3419
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143309753"
variation 3433
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201203115"
exon 3497..3601
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3523
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113157213"
variation 3530
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145516440"
variation 3568
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2227864"
variation 3600
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:141696651"
exon 3602..3625
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 3626..3661
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3626
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201136631"
variation 3628
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:945831"
exon 3662..3709
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 3710..3801
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3729
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:199588924"
variation 3748
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:372831978"
variation 3775
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142305088"
exon 3802..3946
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3868
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199902257"
variation 3885
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146153626"
variation 3886
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373988544"
variation 3931
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:117614529"
variation 3937
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370435310"
exon 3947..4128
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 3981
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048236"
variation 3994
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143844598"
variation 4052
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147233101"
variation 4070
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:368517483"
variation 4108
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192041016"
variation 4109
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138827421"
variation 4128
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149367932"
exon 4129..4228
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4157
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150944593"
variation 4175
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144804532"
variation 4198
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148554113"
exon 4229..4426
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4279
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367635991"
variation 4281
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:143108250"
variation 4304
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:181391744"
variation 4306
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200180598"
variation 4321
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150097844"
variation 4342
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:146150071"
variation 4347
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140159000"
variation 4365
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143166100"
variation 4372
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369789806"
variation 4391
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373033857"
exon 4427..4573
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4437
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374394049"
variation 4492
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228951"
variation 4519
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373857333"
variation 4561
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201716851"
exon 4574..4677
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4606
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371100708"
variation 4609
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:139113273"
variation 4615
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:375026050"
variation 4617
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:374500733"
variation 4618
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367772623"
variation 4622
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145551982"
variation 4625
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149899658"
variation 4640
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374801331"
variation 4659
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182272113"
variation 4662
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145038571"
exon 4678..4840
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4712
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:373650761"
variation 4796
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376255893"
variation 4816
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370640807"
variation 4825
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:201587446"
exon 4841..4972
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4843
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:184863049"
variation 4861
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142161809"
variation 4867
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370609436"
variation 4938
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145913290"
exon 4973..5110
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 4982
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:371679323"
variation 5017
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375199636"
variation 5025
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:374723711"
variation 5086
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:114745823"
variation 5090
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1129924"
exon 5111..5215
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5126
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141409593"
variation 5152
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1415568"
variation 5158
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369670539"
variation 5173
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373491498"
exon 5216..5424
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5238
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375195855"
variation 5273
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148294757"
variation 5336
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141483578"
variation 5343
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368402085"
variation 5352
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150427953"
variation 5368
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200641770"
variation 5375
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371055930"
variation 5376
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374625039"
variation 5408
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368949860"
exon 5425..5545
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5458
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146418243"
variation 5473
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2227862"
variation 5482
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142964132"
variation 5504
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:3750333"
variation 5527
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140191388"
variation 5536
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142234188"
variation 5540
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144458407"
exon 5546..5667
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5590
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:79569204"
variation 5612
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148402616"
variation 5619
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11543347"
exon 5668..5800
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5682
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199532672"
variation 5715
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200248814"
variation 5779
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150960451"
exon 5801..5899
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5842
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140353002"
variation 5857
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144435438"
variation 5858
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371687713"
variation 5887
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147815147"
exon 5900..6059
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 5923
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141474640"
variation 5947
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372782253"
variation 5948
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142498180"
variation 5979
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145733227"
variation 5980
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373426828"
variation 5992
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11543345"
variation 6004
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143633226"
variation 6037
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138320965"
variation 6048
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11543346"
exon 6060..6136
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6109
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:142830725"
exon 6137..6346
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6148
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150801649"
variation 6170
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145129059"
variation 6178
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139799727"
variation 6217
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141602301"
variation 6226
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150902677"
variation 6244
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374511397"
variation 6256
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:367629442"
variation 6257
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201411901"
variation 6265
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:138305416"
variation 6278
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372214130"
variation 6290
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149458689"
variation 6301
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147132904"
variation 6302
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377253398"
variation 6337
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370102482"
exon 6347..6643
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6367
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370624702"
variation 6471
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373259652"
variation 6475
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:199930602"
variation 6484
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140418358"
variation 6520
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376208532"
variation 6543
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201330555"
variation 6555
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144289764"
variation 6564
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200834733"
variation 6565
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:72758823"
variation 6566
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371095095"
variation 6601
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370113838"
variation 6616
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:116778543"
exon 6644..6756
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6721
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372825476"
variation 6727
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112955915"
exon 6757..6774
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 6775..6829
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6778
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:151012062"
variation 6796
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140856932"
exon 6830..7026
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 6830
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372779649"
variation 6831
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201693154"
variation 6893
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375244907"
variation 6934
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376500539"
variation 6952
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:76767787"
variation 6985
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:146535920"
exon 7027..7080
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
exon 7081..7227
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 7157
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374893683"
variation 7195
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369792563"
variation 7213
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:75028792"
variation 7222
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200456378"
exon 7228..7375
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 7240
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147223529"
variation 7266
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145054594"
variation 7300
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138985089"
variation 7315
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148984013"
variation 7316
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143739246"
variation 7351
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201348505"
variation 7353
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148173166"
exon 7376..7832
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/inference="alignment:Splign:1.39.8"
variation 7386
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141980692"
variation 7397
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147149360"
variation 7405
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374405583"
variation 7426
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138634476"
variation 7432
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142777123"
variation 7433
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199866550"
variation 7445
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200531434"
variation 7456
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228952"
variation 7458
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139070536"
variation 7459
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149318543"
variation 7463
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367776636"
variation 7482
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375016371"
variation 7485
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371177004"
variation 7486
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375649697"
variation 7493
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199569281"
variation 7518
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376572315"
variation 7527
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369663978"
variation 7528
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372819699"
variation 7542
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199588859"
variation 7545
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377163231"
variation 7547
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:367989148"
variation 7560
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:75693914"
variation 7586
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="t"
/db_xref="dbSNP:7021150"
variation 7612
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:74995813"
variation 7649
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113912557"
variation 7650
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:188688870"
STS 7651..7796
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/standard_name="SHGC-8025"
/db_xref="UniSTS:85777"
variation 7656
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11543348"
variation 7657
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1803171"
variation 7799
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:181176570"
variation 7800
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184532140"
polyA_signal 7807..7812
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
variation 7825
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:189104921"
polyA_site 7829
/gene="SPTAN1"
/gene_synonym="EIEE5; NEAS; SPTA2"
/note="The 3'-most polyA site has not been determined.
This is an internal polyA site."
ORIGIN
tataaaagaggcggggcgcgcgcgtcgccgccactacccgctgcggagtgaacggtgtggagcggaggccgcggaggctcctcggtccttcagcacccctcggcccgacgcacccacgcccctcaccccccgagagccgaaaatggacccaagtggggtcaaagtgctggaaacagcagaggacatccaggagaggcggcagcaggtcctagaccgataccaccgcttcaaggaactctcaacccttaggcgtcagaagctggaagattcctatcgattccagttctttcaaagagatgctgaagagctggagaaatggatacaggaaaaacttcagattgcatctgatgagaattataaagacccaaccaacttgcagggaaagcttcagaagcatcaagcatttgaagctgaagtgcaggccaactcaggagccattgttaagctggatgaaactggaaacctgatgatctcagaagggcattttgcatctgaaaccatacggacccgtttgatggagctgcaccgccagtgggaattacttttggagaagatgcgagaaaaaggaatcaaactgctgcaggcccagaagttggtgcagtacttacgagaatgtgaggacgtgatggactggatcaatgacaaggaagcaattgttacttctgaagagctgggccaggatctggagcatgtagaggttttacagaagaaatttgaagagtttcaaacagatatggctgctcatgaagaaagagttaatgaagtgaaccagtttgctgccaaactcatacaggagcagcaccctgaggaggaactgatcaagactaagcaggatgaagtcaatgcagcctggcagcggctgaagggcctggctctgcagaggcaggggaagctctttggggcagcagaagttcagcgctttaacagggatgtggatgagactatcagttggattaaggaaaaggagcagttaatggcctctgatgattttggccgagacctggcaagtgttcaggctctgcttcggaagcacgagggtctggagagagatcttgctgctctagaagacaaggtcaaagccctgtgtgctgaggctgaccgcctgcaacagtcccaccctctgagtgcaacacagattcaagtgaagcgagaggaactgattacaaactgggagcagatccgcaccttggcggcagagagacatgcacggctcaatgattcatacaggcttcaacgcttccttgctgacttccgtgacctcaccagctgggtgactgagatgaaagccctcatcaatgcagatgagcttgccagtgatgtggctggggctgaagccctgctagatagacaccaagagcacaagggtgaaattgatgcccatgaagacagcttcaaatctgcagatgaatctggacaggcactgcttgctgctggtcactatgcctcagatgaagtgagggagaagctgaccgtcctttccgaggagagagcggcgctgctggagctgtgggagctgcgcaggcagcagtacgagcagtgcatggacctgcagctcttctaccgggacactgagcaggtggacaactggatgagcaagcaggaggcgttcctgttgaatgaagacttgggagattccttggatagtgtggaagcgcttcttaagaagcacgaagactttgagaaatcccttagtgcccaggaggaaaagattacagcattagatgaatttgcaaccaagctaattcagaacaaccactatgcaatggaagatgtggccactcgccgagatgctctgttgagccgccgcaatgcccttcacgagagagccatgcgtcgccgggcccagctagccgattctttccatctgcagcagtttttccgtgattctgatgagctcaagagttgggtcaatgagaagatgaaaactgccacagatgaagcttataaagatccatccaacctacaaggaaaagtacagaagcatcaggcttttgaggctgagctctcagcaaaccagagccgaattgatgccttggagaaagctggccaaaagctgattgatgtcaaccactatgccaaggatgaagtggcagctcgtatgaatgaggtgatcagtttgtggaagaaactgctagaggccactgaactgaaaggaataaagcttcgtgaagccaaccagcaacagcaatttaatcgcaatgttgaggatattgaattgtggctatatgaagtagaaggtcacttggcttcggatgattacggcaaagatcttaccaatgtgcagaacctccagaagaaacatgccctgctagaggcagatgtggctgctcaccaggaccgaattgatggcatcaccattcaggcccgccagttccaagatgctggccattttgatgcagaaaacatcaagaagaaacaggaagccctcgtggctcgctatgaggcactcaaggagcccatggttgcccggaagcagaagctggccgattctctgcggttgcagcagctcttccgggatgttgaggatgaggagacgtggattcgagagaaagagcccattgccgcatctaccaacagaggtaaggatttaattggggtccagaatctgctaaagaaacatcaagccttacaagcagaaattgctggacatgaaccacgcatcaaagcagttacacagaaggggaatgccatggtggaggaaggccattttgctgcagaggatgtgaaggccaagcttcacgagctgaaccaaaagtgggaggcactgaaagccaaagcttcccagcgtcggcaggacctggaggactctctgcaggcccagcagtactttgctgatgctaacgaggctgaatcctggatgcgggagaaggaacccattgtgggcagcactgactatggcaaggacgaagactctgctgaggctctactgaagaaacacgaagctttgatgtcagatctcagtgcctacggcagcagcatccaggctttgcgagaacaagcacagtcctgccggcaacaagtggcccccacggatgatgagactgggaaggagctggtcttggctctctacgactatcaggagaagagtccccgagaggtcaccatgaagaagggagatatccttaccttactcaacagcaccaacaaggattggtggaaagtggaagtgaacgatcgtcagggttttgtgccggctgcgtacgtgaagaaattggaccccgcccagtcagcctcccgggagaatctcctggaggagcaaggcagcatagcactgcggcaggagcagattgacaatcaatatcattctctgctggaactgggtgagaagcgtaaaggcatgttggagaagagttgcaagaagtttatgttgttccgtgaagcgaatgaactacagcaatggatcaatgagaaggaagccgctctgacaagtgaggaggtcggagcagacttggagcaggttgaggtgctccagaagaagtttgatgacttccagaaggacctgaaggccaatgagtcacggttgaaggacattaacaaggtagctgaagacctggagtctgaaggtctcatggcagaggaggtgcaggctgtgcaacaacaggaagtgtatggcatgatgcccagggatgaaactgattccaagacagcctccccgtggaagtctgctcgtctgatggttcacaccgtggccacctttaattccatcaaggagctgaatgagcgctggcggtccctacagcagctggccgaggaacggagccagctcttgggcagcgcccatgaagtacagaggttccacagagatgctgatgaaaccaaagaatggattgaagagaagaatcaagctctaaacacagacaattatggacatgatctcgccagtgtccaggccctgcaacgcaagcatgagggcttcgagagggaccttgcggctctcggtgacaaggtaaactcccttggtgaaacagcagagcgcctgatccagtcccatcccgagtcagcagaagacctgcaggaaaagtgcacagagttaaaccaggcctggagcagcctggggaaacgtgcagatcagcgcaaggcaaagttgggtgactcccacgacctgcagcgcttccttagcgatttccgggacctcatgtcttggatcaatggaatacgggggttggtgtcctcagatgagctagccaaggatgtcaccggagctgaggcattgctggagcgacaccaggaacaccggacagaaatcgatgccagggctggcactttccaggcatttgagcagtttggacagcagctgttggctcacggacactatgccagccctgagatcaagcagaaacttgatattcttgaccaggagcgtgcagacctggagaaggcctgggttcagcgcaggatgatgctggatcagtgccttgaactgcagctgttccatcgggactgtgagcaagctgagaactggatggctgcccgggaggccttcttgaataccgaagacaaaggagactcactggacagcgtagaggctctgatcaaaaaacatgaagactttgacaaagcgattaacgtccaggaagagaagattgctgctctgcaggcctttgccgaccagctcatcgctgccggccattatgccaagggagacatttctagccggcgcaatgaggtcttggacaggtggcgacgtctgaaagcccagatgattgagaaaaggtcaaagctaggagaatctcaaaccctccaacagttcagccgggatgtggatgagattgaggcttggatcagtgaaaaattgcaaacagcgagtgatgagtcgtacaaggatcccaccaacatccagagcaagcaccagaagcaccaggcttttgaagcagagctgcatgccaacgctgaccggatccgtggggttatcgacatgggcaactccctcattgaacgtggagcctgtgccggcagtgaggatgctgtcaaggcccgcctggctgccttagctgaccagtggcagttcttggtgcaaaagtcagcggaaaagagccagaaactgaaagaagccaacaagcagcagaacttcaacacagggatcaaggactttgacttctggctgtctgaggtggaggccctgctggcatccgaagattatggcaaagacctggcttctgtgaacaacctgctgaaaaagcatcaactgctggaagcagatatatctgcccatgaggatcgcctgaaggacctgaacagccaggcagacagcctgatgaccagcagtgccttcgacacctcccaagtaaaggacaagagggacaccatcaacgggcgcttccagaagatcaagagcatggcggcctcccggcgagccaagctgaatgaatcccatcgcctgcaccagttcttccgggacatggatgacgaggagtcctggatcaaggagaagaagctgctggtgggctcagaggactacggccgggacctaaccggcgtgcagaacctgaggaagaagcacaagcggctggaagcagaactggctgcgcatgagccggctattcagggtgtcctggacactggcaagaagctgtccgatgacaacaccatcgggaaagaggagatccagcagcggctggcgcagtttgtggagcactggaaagagctgaagcagctggcagctgcccggggtcagcggctggaagagtccttggaatatcagcagtttgtagccaatgtggaagaggaagaagcctggatcaatgagaaaatgaccctggtggccagcgaagattatggcgacactcttgccgccatccagggcttactgaagaaacatgaagcttttgagacagacttcaccgtccacaaggatcgcgtgaatgatgtctgcaccaatggacaagacctcattaagaagaacaatcaccatgaggagaacatctcttcaaagatgaagggcctgaacgggaaagtgtcagacctggagaaagctgcagcccagagaaaggcgaagctggatgagaactcggccttccttcagttcaactggaaggcggacgtggtggagtcctggatcggtgaaaaggagaacagcttgaagacagatgattatggccgagacctgtcttctgtgcagacgctcctcaccaaacaggaaacttttgacgctgggctgcaggccttccagcaggaaggcattgccaacatcactgccctcaaagatcagcttctcgccgccaaacacgttcagtccaaggccatcgaggcccggcacgcctccctcatgaagaggtggagccagcttctggccaactcagccgcccgcaagaagaagcttctggaggctcagagtcacttccgcaaggtggaggacctcttcctgaccttcgccaaaaaggcttctgccttcaacagctggtttgaaaatgcagaggaggacttaacagaccccgtgcgctgcaactccttggaagaaatcaaagctttgcgcgaggcccacgacgccttccgctcctccctcagctctgcccaggctgacttcaaccagctggccgagctggaccgccagatcaagagcttccgcgtagcctccaacccctacacctggtttaccatggaggccctggaggagacctggaggaacctacagaaaatcatcaaggagagggagctggagctgcagaaggaacagcggcggcaggaggagaacgacaagctgcgccaggagtttgcccagcacgccaacgccttccaccagtggatccaagagaccaggacatacctcctcgatgggtcctgtatggtggaagagtcggggaccctcgaatcccagcttgaagctaccaaacgcaagcaccaggaaatccgagccatgagaagtcagctcaaaaagatcgaggacctgggggccgccatggaggaggccctcatcctggacaacaagtacacggagcacagcaccgtgggcctcgcccagcagtgggaccagctggaccagctgggcatgcgcatgcagcacaacctggagcagcagatccaggccaggaacacaacaggtgtgactgaggaggccctcaaagaattcagcatgatgtttaaacactttgacaaggacaagtctggcaggctgaaccatcaggagttcaaatcttgcctgcgctccctgggctatgacctgcccatggtggaggaaggggaacctgaccctgagttcgaggcaatcctggacacggtggatccgaacagagatggccatgtctccttgcaagaatacatggctttcatgatcagccgcgaaactgagaacgtcaagtccagcgaggagattgagagcgccttccgggccctcagctcagagggaaagccttacgtgaccaaggaggagctctaccagaacctgacccgggaacaagccgactactgcgtctcccacatgaagccctacgtggacggcaagggccgcgagctccccaccgcgttcgactacgtggagttcacccgctcgcttttcgtgaactgagccactccctgggtcacccacccctcgctgcttgccctgcgtcgccttgctgcatgtccgctcctctgtgtgctctcactttccactgtaaccttaagcctgcttagcttggaataagacttaggagaaaatggtgcttcactaacccgcttccggtccagtcacaatcatcatgtcactgtggggacccagatctgtgtcttgaagcagctgccctcattccgacttcagaaaatcgaagcagctggctcctccccttgttctctctcccaccctcccccaaatctgttttcatgtaaaagacaaataaatgatgacttcccccaaagct
//
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
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