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2024-04-18 13:00:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032975 6537 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 2,
mRNA.
ACCESSION NM_032975
VERSION NM_032975.3 GI:189571591
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 6537)
AUTHORS Navakauskiene,R., Treigyte,G., Borutinskaite,V.V., Matuzevicius,D.,
Navakauskas,D. and Magnusson,K.E.
TITLE Alpha-Dystrobrevin and its associated proteins in human
promyelocytic leukemia cells induced to apoptosis
JOURNAL J Proteomics 75 (11), 3291-3303 (2012)
PUBMED 22507200
REMARK GeneRIF: apoptosis-induction in HL-60 cells involves not only
classical markers of apoptosis but also a network
alpha-DB-associated proteins at the cell membrane, the cytoplasm
and nucleus, affecting key cellular transport processes and
cellular structure.
REFERENCE 2 (bases 1 to 6537)
AUTHORS Borutinskaite,V.V., Magnusson,K.E. and Navakauskiene,R.
TITLE alpha-Dystrobrevin distribution and association with other proteins
in human promyelocytic NB4 cells treated for granulocytic
differentiation
JOURNAL Mol. Biol. Rep. 38 (5), 3001-3011 (2011)
PUBMED 20111909
REMARK GeneRIF: Results suggest that alpha-dystrobrevin isoforms play a
central role in cytoskeleton reorganization via their multiple
interactions with actin and actin-associating proteins.
REFERENCE 3 (bases 1 to 6537)
AUTHORS Lyssand,J.S., Whiting,J.L., Lee,K.S., Kastl,R., Wacker,J.L.,
Bruchas,M.R., Miyatake,M., Langeberg,L.K., Chavkin,C., Scott,J.D.,
Gardner,R.G., Adams,M.E. and Hague,C.
TITLE Alpha-dystrobrevin-1 recruits alpha-catulin to the
alpha1D-adrenergic receptor/dystrophin-associated protein complex
signalosome
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (50), 21854-21859 (2010)
PUBMED 21115837
REMARK GeneRIF: Data show that alpha-dystrobrevin-1 recruits
alpha-catulin, which supersensitizes alpha(1D)-AR functional
responses by recruiting effector molecules to the signalosome.
REFERENCE 4 (bases 1 to 6537)
AUTHORS Lanciotti,A., Brignone,M.S., Camerini,S., Serafini,B., Macchia,G.,
Raggi,C., Molinari,P., Crescenzi,M., Musumeci,M., Sargiacomo,M.,
Aloisi,F., Petrucci,T.C. and Ambrosini,E.
TITLE MLC1 trafficking and membrane expression in astrocytes: role of
caveolin-1 and phosphorylation
JOURNAL Neurobiol. Dis. 37 (3), 581-595 (2010)
PUBMED 19931615
REFERENCE 5 (bases 1 to 6537)
AUTHORS Bohm,S.V., Constantinou,P., Tan,S., Jin,H. and Roberts,R.G.
TITLE Profound human/mouse differences in alpha-dystrobrevin isoforms: a
novel syntrophin-binding site and promoter missing in mouse and rat
JOURNAL BMC Biol. 7, 85 (2009)
PUBMED 19961569
REMARK GeneRIF: Fundamental functional differences between the
alpha-dystrobrevins of mice and humans raises questions about the
use of the mouse as a model animal for Duchenne muscular dystrophy.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 6537)
AUTHORS Sadoulet-Puccio,H.M., Feener,C.A., Schaid,D.J., Thibodeau,S.N.,
Michels,V.V. and Kunkel,L.M.
TITLE The genomic organization of human dystrobrevin
JOURNAL Neurogenetics 1 (1), 37-42 (1997)
PUBMED 10735273
REFERENCE 7 (bases 1 to 6537)
AUTHORS Blake,D.J., Nawrotzki,R., Peters,M.F., Froehner,S.C. and
Davies,K.E.
TITLE Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic
protein
JOURNAL J. Biol. Chem. 271 (13), 7802-7810 (1996)
PUBMED 8631824
REFERENCE 8 (bases 1 to 6537)
AUTHORS Ahn,A.H., Freener,C.A., Gussoni,E., Yoshida,M., Ozawa,E. and
Kunkel,L.M.
TITLE The three human syntrophin genes are expressed in diverse tissues,
have distinct chromosomal locations, and each bind to dystrophin
and its relatives
JOURNAL J. Biol. Chem. 271 (5), 2724-2730 (1996)
PUBMED 8576247
REFERENCE 9 (bases 1 to 6537)
AUTHORS Ahn,A.H. and Kunkel,L.M.
TITLE Syntrophin binds to an alternatively spliced exon of dystrophin
JOURNAL J. Cell Biol. 128 (3), 363-371 (1995)
PUBMED 7844150
REFERENCE 10 (bases 1 to 6537)
AUTHORS Khurana,T.S., Engle,E.C., Bennett,R.R., Silverman,G.A., Selig,S.,
Bruns,G.A. and Kunkel,L.M.
TITLE (CA) repeat polymorphism in the chromosome 18 encoded
dystrophin-like protein
JOURNAL Hum. Mol. Genet. 3 (5), 841 (1994)
PUBMED 8081380
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA073612.1, U26742.1,
AB209102.1, AL833285.1, BC033969.1 and BX103860.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 10, 2008 this sequence version replaced gi:42717998.
Summary: The protein encoded by this gene belongs to the
dystrobrevin subfamily of the dystrophin family. This protein is a
component of the dystrophin-associated protein complex (DPC), which
consists of dystrophin and several integral and peripheral membrane
proteins, including dystroglycans, sarcoglycans, syntrophins and
alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma
and its disruption is associated with various forms of muscular
dystrophy. Mutations in this gene are associated with left
ventricular noncompaction with congenital heart defects. Multiple
alternatively spliced transcript variants encoding different
isoforms have been identified for this gene. [provided by RefSeq,
Jul 2008].
Transcript Variant: This variant (2), also known as alpha
transcript, lacks two consecutive in-frame coding exons, compared
to variant 1. The resulting isoform (2) lacks an internal segment,
as compared to 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##
CDS exon combination :: U46744.1 [ECO:0000331]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-27 DA073612.1 1-27
28-1445 U26742.1 1-1418
1446-3820 AB209102.1 1386-3760
3821-5597 AL833285.1 3788-5564
5598-6077 BC033969.1 215-694
6078-6537 BX103860.1 122-581
FEATURES Location/Qualifiers
source 1..6537
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18q12"
gene 1..6537
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="dystrobrevin, alpha"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="HPRD:03141"
/db_xref="MIM:601239"
exon 1..225
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 99
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374580996"
variation 200
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369004840"
exon 226..350
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 226
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:116580692"
variation 233
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78178126"
misc_feature 316..318
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="upstream in-frame stop codon"
exon 351..418
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
CDS 352..2412
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="isoform 2 is encoded by transcript variant 2;
dystrophin-related protein 3"
/codon_start=1
/product="dystrobrevin alpha isoform 2"
/protein_id="NP_116757.2"
/db_xref="GI:42717999"
/db_xref="CCDS:CCDS45848.1"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="HPRD:03141"
/db_xref="MIM:601239"
/translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG
"
misc_feature 391..771
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF hand; Region: efhand_1; pfam09068"
/db_xref="CDD:149945"
misc_feature 781..1047
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF-hand; Region: efhand_2; pfam09069"
/db_xref="CDD:149946"
misc_feature 1072..1218
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="Zinc finger, ZZ type. Zinc finger present in
dystrophin and dystrobrevin. The ZZ motif coordinates two
zinc ions and most likely participates in ligand binding
or molecular scaffolding. Dystrophin attaches actin
filaments to an integral membrane...; Region:
ZZ_dystrophin; cd02334"
/db_xref="CDD:30238"
misc_feature order(1078..1080,1087..1089,1123..1125,1132..1134,
1150..1152,1159..1161,1189..1191,1201..1203)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="Zinc-binding sites [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature order(1078..1080,1087..1089,1150..1152,1159..1161)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="zinc cluster 1 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature order(1081..1083,1114..1116,1120..1122,1138..1140,
1144..1146)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="putative charged binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(1117..1119,1162..1164,1207..1209,1216..1218)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="putative hydrophobic binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(1123..1125,1132..1134,1189..1191,1201..1203)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="zinc cluster 2 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature <1606..1818
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="Seryl-tRNA synthetase N-terminal domain; Region:
Seryl_tRNA_N; pfam02403"
/db_xref="CDD:202232"
variation 358
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200021359"
variation 402
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368000651"
exon 419..499
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 443
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202046233"
variation 450
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200882383"
variation 463
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200256996"
variation 477
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376001633"
variation 486
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1071632"
exon 500..713
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 525
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145335092"
variation 557
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148805060"
variation 561
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117571555"
variation 577
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:113870126"
variation 580
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147782267"
variation 582
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147759402"
variation 594
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146923532"
variation 643
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150961489"
variation 646
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200736432"
variation 667
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:140768365"
variation 704
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141141892"
variation 713
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894654"
exon 714..799
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 722
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150147476"
variation 739
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375175495"
variation 774
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376651004"
exon 800..954
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 822..823
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:11417127"
variation 827
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147115867"
variation 830
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201550119"
variation 833
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199960642"
variation 848
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376007740"
variation 857
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201674479"
variation 858
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367763240"
variation 888
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:11877640"
variation 890
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1048081"
variation 903
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201461820"
variation 904
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200306991"
exon 955..1060
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 965
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201071018"
variation 1008
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140446215"
variation 1026
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376519672"
exon 1061..1227
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1135
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369043538"
variation 1170
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199617326"
variation 1175
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373047659"
variation 1186
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111611922"
exon 1228..1352
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1255
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199983981"
variation 1284
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114170541"
variation 1295
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138085660"
variation 1306
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141981161"
variation 1320
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201472116"
variation 1329
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200830541"
variation 1350
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61737438"
variation 1351
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148123045"
exon 1353..1361
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
exon 1362..1445
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
STS 1381..1507
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="D6S1400E"
/db_xref="UniSTS:147378"
variation 1384
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374704854"
variation 1390
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374347283"
exon 1446..1533
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1454
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374916548"
variation 1503
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144776465"
variation 1523
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147541731"
variation 1530
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202088347"
exon 1534..1631
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1537
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77320474"
variation 1553
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:190619495"
variation 1578
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145061501"
variation 1579
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144880521"
exon 1632..1745
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1665
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149071180"
variation 1691
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199828427"
variation 1735
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371363393"
exon 1746..1842
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1751
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142108185"
variation 1819
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376207145"
variation 1828
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370629863"
exon 1843..2002
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1863
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151158035"
variation 1865
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200246467"
variation 1870
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199645550"
variation 1875
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:113072494"
variation 1920
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:9959365"
variation 1937
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145425478"
variation 1946
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199556035"
variation 1947
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373742103"
variation 1948
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:75615735"
variation 1965
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199774892"
variation 1976
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200805008"
variation 1985
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199596768"
exon 2003..2092
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2017
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372620035"
variation 2035
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191002814"
variation 2063
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376597436"
variation 2070
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:199855849"
exon 2093..2261
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2138
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138143719"
variation 2162
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201829681"
variation 2167
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376851710"
variation 2193
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369914309"
variation 2207
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142009291"
variation 2216
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150410546"
variation 2221
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:138145650"
variation 2251
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:368868084"
variation 2252
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111587625"
exon 2262..2394
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2267
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200977103"
variation 2268
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374444921"
variation 2277
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145486636"
variation 2306
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113556738"
variation 2327
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371303988"
variation 2382
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:187028045"
exon 2395..2443
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
exon 2444..6522
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2585
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:146475795"
variation 2621
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116400062"
variation 2642
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:57165372"
variation 2646
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16966155"
variation 2723
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111248054"
variation 2741
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139929781"
variation 2773
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181083183"
variation 2826
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:9950418"
variation 2903
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:149598633"
variation 2925
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:186132677"
variation 2958
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:200940754"
variation 3036
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190607495"
variation 3114
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182840042"
variation 3283
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:187385677"
variation 3310
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149726324"
variation 3337
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201835977"
variation 3361
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:111319152"
variation 3413
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145238763"
variation 3449
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372818476"
variation 3453
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373595039"
variation 3807..3808
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:200402891"
variation 3814..3815
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:35125248"
STS 3817..4081
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="WI-21186"
/db_xref="UniSTS:13566"
variation 3874
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:367771488"
variation 3919
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143236354"
STS 3940..4142
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH81068"
/db_xref="UniSTS:84148"
variation 3963
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151249058"
variation 3974
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141815886"
variation 3986
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3133"
variation 4003
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:192226645"
variation 4052
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:76507055"
variation 4080
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376804490"
variation 4137
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:147118542"
variation 4161
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183137910"
variation 4194..4195
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:34117234"
variation 4212
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:187414791"
variation 4291
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138455778"
variation 4329
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:191833021"
variation 4350
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:16966160"
variation 4452
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:143972699"
variation 4558
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182528646"
variation 4684
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:10502637"
variation 4716
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187877718"
variation 4759
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:150254745"
variation 4840
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138447301"
variation 4841
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72962231"
variation 4894
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:192501097"
variation 4935
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114631141"
variation 5005
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:9944927"
variation 5173
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7227051"
variation 5281
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184426501"
variation 5307
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190514847"
variation 5398
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112055845"
STS 5478..5637
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="A006B16"
/db_xref="UniSTS:3979"
STS 5478..5637
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="G20674"
/db_xref="UniSTS:3978"
variation 5487
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149271384"
STS 5590..5739
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="WI-14278"
/db_xref="UniSTS:60009"
variation 5653
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:73418686"
variation 5789
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:192402506"
variation 5836
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:996755"
variation 5922
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:674338"
variation 5945..5946
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="tg"
/db_xref="dbSNP:34383224"
variation 5946
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201691364"
variation 5956..5957
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="gt"
/db_xref="dbSNP:5823957"
variation 5968..5969
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="gt"
/db_xref="dbSNP:3081492"
variation 5969..5970
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="gt"
/replace="gtgt"
/db_xref="dbSNP:200330341"
STS 6113..6241
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH98997"
/db_xref="UniSTS:86943"
variation 6130
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139109039"
STS 6169..6453
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="SGC38125"
/db_xref="UniSTS:53214"
variation 6243
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375929758"
variation 6289
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:10153380"
variation 6343
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376796429"
variation 6354
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:142635681"
polyA_signal 6504..6509
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
variation 6511
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:372697531"
polyA_site 6522
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
ORIGIN
aggatgagatcatagtttcaggatcctcaggaaaccctggtactggcagcagccagcctctgctgtgcccacatgacccacaactctggcagcggacccggcacttccaacattattaaataataagaaagcggctcctactccaggctcaaacctccctgcagaccaatggacaccttctaagagtttggcgagtcagtgactgaagcgcccgtccattccaagataaataggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgccatttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttagaatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcagtgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccggttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacagtgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgttgatacttggcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctctccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcgtcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagatgtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggctgcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttgggagtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgttccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtacattcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagatccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaatgagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcaggtcagcttgcaaggttgaatgcaatatccttttatcacactcctctcaagcaagctatagtcagacagatgatgaaagtaacatgaaaactggtgatgatggagagccctgtggccacacagaggaggaagacagcagcctggcagcagcctcaccgaagagaggaaccaccacacccagcagctcctgacagacccccacccctaaagatgtgtcctgatgactatagtgcagctaactttttgttctcagatttgtagtgcataggtgtgtgtttcaagaaggaaaaaaaaagacttctgttcaaagttaacttatcagctacatcctctgtaacgtggttcatccctggttaaaaagcaaacaaacacaggctgaaaacccatgctgctgttatacacaatggcagtattaacaagcattttaaacctttgcacatgatattgaacctgttcagtttacaatgacaatattaatactgtttatagctagaagtttgatttctgaattctttgagattttagcaaaacagtttattatacactgtacatttttttcacagcaattggaaaaaaacaaccacttgcaatcattcaataaccctgaagaatttggttcctgagtgtacaaactcagagcccggaagccaagaagggtccttggcctgcacggtctgtagttgactccaagtctctgtgagcagtgacttgaaccaaacacaccaggaataatccattctttggggcctctttccaactcgaggttgttttctttcaagatactctaatcagccatagaatttagtgtaaatatttttttttccaaatagatatcatattcaaaaaaggcagcattcaaattatatagaatctagtttttaaaatcagcacagatcttcttaaaaactgtgaactatgttttgaaatactcgttactaaagctgtttataaaccacaggtgccataagatccccaaacggactaaagttatctctgctcttccatggtcttgttcctctcgttttggctttaggaagcatgtctttaacagcaccgctcgttcacaagttcccccatcaagttgtttggaggccttcagctttaaatgtacaggcttaaagtgcgcttgcaaacgtttgctctcctttttttctgaatgttgattgccttagctggccacctggtgttctgcatgtagccttctgtggtcatgtgaaaggagacaggctcttctaagttgagttgggatttttgcactcagtgaaaagctgaagtgcaaaagagctatcaaagacaagaggataaaagactgggatagtcttttccaaggaccctctttagagggccctaaagacctcctttgggaattctggggaaaaagaaaaagtaatcttctacttgcttcaagatttgatttttttaaaaaagcctgcgacctattcaatacattatgcttaaattagcagtttctctggaattcctgtctctcctttaaaagaaaggagagaacattttagaacaatagttctcaaagtgtgttccccggacaagcagcatctgcaacacttaggaaggtcttcgaaatactaatttgtaagccccacctcaggcctactgaatcagaagctctgggggttgggtccagaagtctgttttagtcaaccctctaggtgattctgatgctcgctaaaggttgagaactactgctttagaatgaagtcgtataataaagtctctgaaaaggccttattcagaataagcaagaaaggttctgtgattcacttttgcttctggggctggcaaaaaccttctctgaacccacacaccaagttcgtagttggtaggtgcccagccaagtcctgacatcttcatgccccctctgcagagggcggctgtacgatgttcacatgtctgcgtttggtcagacatcatctccttggctgccctttgaaaccaaatcacttgccttggggataaagtgctcaattggcattagtgagaagcccatcctatcccttgacatacttaatcatatatctctccagagaactcacctgacaaatgtctctgagcacaggctgacaccaaagtggcacaactgcacagttctcagatttctttgcacagattgatttttattgcgggttttgttggggtgtcttaatgttcatctcttttccactgcccatcctctgtgaacccatacctctctagatggagcaggtggccactggtgcctcatactcagtattgaaaaccactacatcccagctacctataatgctgtcagctcaaaatcatagccaggtagttcttgaactcagaacttaaatcctgcacgtggcactccaccactgactggaccgagctggcatatgttgtttctttgtgtttctacatcaaaatgttcgtctaagatttgaactgttctgctgataaccttccccgttgtcatagctatttcattgccaaccaactccatcacatggttgttgatatcgtcatataaagccattgcaaggactctggaaactgccgccaatgaccaatttctgactaaccagccaccttttctctctcttagctccacgtcagcactgagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttggggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctgttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttgcgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgatagcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatggaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtcaggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaatgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaactgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgcatgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctttgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacctttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactccactgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaagtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttgacaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattgtaaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtgtgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaactatttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaaaaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgtggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattgatggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatggtttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgctatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaacatatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattctttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttgttgaattactgaataaatgaattagtggtgaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:1837 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:1837 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:1837 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:1837 -> Biological process: GO:0006941 [striated muscle contraction] evidence: TAS
GeneID:1837 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:1837 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
GeneID:1837 -> Biological process: GO:0007274 [neuromuscular synaptic transmission] evidence: TAS
GeneID:1837 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
GeneID:1837 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:1837 -> Cellular component: GO:0030054 [cell junction] evidence: IEA
GeneID:1837 -> Cellular component: GO:0043234 [protein complex] evidence: IDA
GeneID:1837 -> Cellular component: GO:0045202 [synapse] evidence: IEA
by
@meso_cacase at
DBCLS
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