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2025-05-09 17:22:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001198940 6509 bp mRNA linear PRI 01-MAY-2013
DEFINITION Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 12,
mRNA.
ACCESSION NM_001198940
VERSION NM_001198940.1 GI:312147262
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 6509)
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 6509)
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 6509)
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 6509)
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 6509)
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 6509)
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 6509)
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 6509)
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 6509)
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 6509)
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 DA197970.1, AB209102.1 and
AC068506.10.
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 (12) differs in the CDS compared
to variant 1. The resulting isoform (12) lacks two internal
segments, compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: AB209102.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-47 DA197970.1 1-47
48-3807 AB209102.1 1-3760
3808-6509 AC068506.10 48019-50720 c
FEATURES Location/Qualifiers
source 1..6509
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18q12"
gene 1..6509
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="dystrobrevin, alpha"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="MIM:601239"
exon 1..221
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 115
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148813783"
variation 126
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:143454310"
variation 170
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:183120151"
exon 222..346
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 222
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:116580692"
variation 229
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78178126"
misc_feature 312..314
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="upstream in-frame stop codon"
exon 347..414
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
CDS 348..2399
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="isoform 12 is encoded by transcript variant 12;
dystrophin-related protein 3"
/codon_start=1
/product="dystrobrevin alpha isoform 12"
/protein_id="NP_001185869.1"
/db_xref="GI:312147263"
/db_xref="CCDS:CCDS59311.1"
/db_xref="GeneID:1837"
/db_xref="HGNC:3057"
/db_xref="MIM:601239"
/translation="
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHPVECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG
"
misc_feature 387..767
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF hand; Region: efhand_1; pfam09068"
/db_xref="CDD:149945"
misc_feature 777..1043
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="EF-hand; Region: efhand_2; pfam09069"
/db_xref="CDD:149946"
misc_feature 1068..1214
/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(1074..1076,1083..1085,1119..1121,1128..1130,
1146..1148,1155..1157,1185..1187,1197..1199)
/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(1074..1076,1083..1085,1146..1148,1155..1157)
/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(1077..1079,1110..1112,1116..1118,1134..1136,
1140..1142)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="putative charged binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(1113..1115,1158..1160,1203..1205,1212..1214)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="putative hydrophobic binding surface; other site"
/db_xref="CDD:30238"
misc_feature order(1119..1121,1128..1130,1185..1187,1197..1199)
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/note="zinc cluster 2 [ion binding]; other site"
/db_xref="CDD:30238"
misc_feature <1593..1805
/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 354
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200021359"
variation 398
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368000651"
exon 415..495
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 439
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202046233"
variation 446
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200882383"
variation 459
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200256996"
variation 473
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376001633"
variation 482
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1071632"
exon 496..709
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 521
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145335092"
variation 553
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148805060"
variation 557
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117571555"
variation 573
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:113870126"
variation 576
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147782267"
variation 578
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147759402"
variation 590
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146923532"
variation 639
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150961489"
variation 642
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200736432"
variation 663
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:140768365"
variation 700
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141141892"
variation 709
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894654"
exon 710..795
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 718
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150147476"
variation 735
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375175495"
variation 770
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376651004"
exon 796..950
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 818..819
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:11417127"
variation 823
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147115867"
variation 826
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201550119"
variation 829
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199960642"
variation 844
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376007740"
variation 853
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201674479"
variation 854
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367763240"
variation 884
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:11877640"
variation 886
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1048081"
variation 899
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201461820"
variation 900
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200306991"
exon 951..1056
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 961
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201071018"
variation 1004
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140446215"
variation 1022
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376519672"
exon 1057..1223
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1131
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369043538"
variation 1166
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199617326"
variation 1171
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373047659"
variation 1182
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111611922"
exon 1224..1348
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1251
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199983981"
variation 1280
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114170541"
variation 1291
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138085660"
variation 1302
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141981161"
variation 1316
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201472116"
variation 1325
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200830541"
variation 1346
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61737438"
variation 1347
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148123045"
exon 1349..1432
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
STS 1368..1494
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="D6S1400E"
/db_xref="UniSTS:147378"
variation 1371
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374704854"
variation 1377
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374347283"
exon 1433..1520
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1441
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374916548"
variation 1490
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144776465"
variation 1510
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147541731"
variation 1517
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202088347"
exon 1521..1618
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1524
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77320474"
variation 1540
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:190619495"
variation 1565
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145061501"
variation 1566
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144880521"
exon 1619..1732
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1652
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149071180"
variation 1678
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199828427"
variation 1722
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371363393"
exon 1733..1829
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1738
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142108185"
variation 1806
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376207145"
variation 1815
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370629863"
exon 1830..1989
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 1850
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151158035"
variation 1852
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200246467"
variation 1857
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199645550"
variation 1862
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:113072494"
variation 1907
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:9959365"
variation 1924
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145425478"
variation 1933
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199556035"
variation 1934
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373742103"
variation 1935
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:75615735"
variation 1952
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199774892"
variation 1963
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200805008"
variation 1972
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199596768"
exon 1990..2079
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2004
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372620035"
variation 2022
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191002814"
variation 2050
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376597436"
variation 2057
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:199855849"
exon 2080..2248
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2125
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138143719"
variation 2149
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201829681"
variation 2154
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376851710"
variation 2180
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369914309"
variation 2194
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142009291"
variation 2203
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150410546"
variation 2208
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:138145650"
variation 2238
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:368868084"
variation 2239
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111587625"
exon 2249..2381
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2254
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200977103"
variation 2255
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374444921"
variation 2264
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145486636"
variation 2293
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113556738"
variation 2314
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371303988"
variation 2369
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:187028045"
exon 2382..2430
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
exon 2431..6509
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/inference="alignment:Splign:1.39.8"
variation 2572
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:146475795"
variation 2608
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116400062"
variation 2629
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:57165372"
variation 2633
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16966155"
variation 2710
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111248054"
variation 2728
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139929781"
variation 2760
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181083183"
variation 2813
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:9950418"
variation 2890
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:149598633"
variation 2912
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:186132677"
variation 2945
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:200940754"
variation 3023
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190607495"
variation 3101
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182840042"
variation 3270
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:187385677"
variation 3297
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149726324"
variation 3324
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201835977"
variation 3348
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:111319152"
variation 3400
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145238763"
variation 3436
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372818476"
variation 3440
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373595039"
variation 3794..3795
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="t"
/db_xref="dbSNP:200402891"
variation 3801..3802
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:35125248"
STS 3804..4068
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="WI-21186"
/db_xref="UniSTS:13566"
variation 3861
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:367771488"
variation 3906
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143236354"
STS 3927..4129
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH81068"
/db_xref="UniSTS:84148"
variation 3950
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151249058"
variation 3961
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141815886"
variation 3973
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3133"
variation 3990
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:192226645"
variation 4039
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:76507055"
variation 4067
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376804490"
variation 4124
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:147118542"
variation 4148
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183137910"
variation 4181..4182
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="a"
/db_xref="dbSNP:34117234"
variation 4199
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:187414791"
variation 4278
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138455778"
variation 4316
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:191833021"
variation 4337
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:16966160"
variation 4439
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:143972699"
variation 4545
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182528646"
variation 4671
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:10502637"
variation 4703
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:187877718"
variation 4746
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:150254745"
variation 4827
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138447301"
variation 4828
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72962231"
variation 4881
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:192501097"
variation 4922
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114631141"
variation 4992
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:9944927"
variation 5160
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7227051"
variation 5268
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:184426501"
variation 5294
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190514847"
variation 5385
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112055845"
STS 5465..5624
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="A006B16"
/db_xref="UniSTS:3979"
STS 5465..5624
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="G20674"
/db_xref="UniSTS:3978"
variation 5474
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:149271384"
STS 5577..5726
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="WI-14278"
/db_xref="UniSTS:60009"
variation 5640
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:73418686"
variation 5776
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:192402506"
variation 5823
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:996755"
variation 5909
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:674338"
variation 5932..5933
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="tg"
/db_xref="dbSNP:34383224"
variation 5933
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201691364"
variation 5943..5944
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="gt"
/db_xref="dbSNP:5823957"
variation 5955..5956
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="gt"
/db_xref="dbSNP:3081492"
variation 5956..5957
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace=""
/replace="gt"
/replace="gtgt"
/db_xref="dbSNP:200330341"
STS 6100..6228
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="RH98997"
/db_xref="UniSTS:86943"
variation 6117
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139109039"
STS 6156..6440
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/standard_name="SGC38125"
/db_xref="UniSTS:53214"
variation 6230
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375929758"
variation 6276
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:10153380"
variation 6330
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376796429"
variation 6341
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:142635681"
polyA_signal 6491..6496
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
variation 6498
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:372697531"
polyA_site 6509
/gene="DTNA"
/gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1"
ORIGIN
attttcaagttaaagatagacacagtacacaccaggatctagaggctggatttcatactcatagctctccctagaatttcagagagttctgttatgatctctgttgtaattaccaatttggttcaagtttgttctttaaatgaatatgcttagaattcacatatgttctggatgtactggaattaaaaggatttaagagatcatggtgtgcatgttctaggataaataggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgccatttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttagaatgattgaagatagtgggaaaagaggaaataccatggcagaaagaagacagctgtttgcagagatgagggctcaagatctggatcgcatccgactctccacctacagaacagcatgcaagcttaggtttgttcagaagaaatgcaatttgcacctggtggacatatggaatgtcatagaagcattgcgggaaaatgctctgaacaacctggacccaaacactgaactcaacgtgtcccgcttagaggctgtgctctccactattttttaccagctcaacaaacggatgccaaccactcaccaaatccatgtggagcagtccatcagcctcctccttaacttcctgcttgcagcgtttgatccggaaggccatggtaaaatttcagtatttgctgtcaaaatggctttagccacattgtgtggagggaagatcatggacaaattaagatatattttctcaatgatttctgactccagtggggtgatggtttatggacgatatgaccaattccttcgggaagttctcaaactacccacggcagtttttgaaggtccttcatttggttacacagaacagtcagccagatcctgtttctcccaacagaaaaaagtcacgttaaatggtttcttggacacgcttatgtcagatcctcccccgcagtgtctggtctggttgcctcttctgcatcgactagcaaatgtggaaaatgtcttccatccggttgagtgttcctactgccacagtgagagtatgatgggatttcgctaccgatgccaacagtgtcacaattaccagctctgtcaggactgcttctggaggggacatgccggtggttctcatagcaaccagcaccaaatgaaagagtacacgtcatggaaatcacctgctaagaagctgactaatgcattaagcaagtccctgagctgtgcttccagccgtgaacctttgcaccccatgttcccagatcagcctgagaagccactcaacttggctcacatcgtgcctcccagacctgtaaccagcatgaacgacaccctgttctcccactctgttccctcctcaggaagtccttttattaccaggagcatgcttgagagttcaaaccggcttgatgaagaacacaggctaattgccaggtatgcggcaaggctggcagcagagtcctcttcgtctcagccacctcagcagagaagtgctcctgacatctctttcaccatcgatgcgaataagcagcaaaggcagctgattgctgagctagaaaacaagaacagagaaatcttacaggagatccagagacttcggctagagcatgaacaagcttctcagcccacgccagagaaggcacagcaaaaccccaccctgctggcagaactccggctcctcagacagcgcaaagatgagctggaacagagaatgtctgctctccaggagagccggagagagctaatggtccagttggagggtctcatgaagctactaaagactcagggggcaggctctccccgctcctcccccagccacaccatcagcaggccaattcccatgcccatccggtcagcgtcagcctgctccaccccgacgcacacgccgcaggactccctcacaggagtagggggagatgtacaagaggcatttgcacaaagttcaagaagaaacttaaggaatgacttgctagtggctgcagattccatcactaacactatgtcctctcttgtgaaagagctgaattctgaggttgggagtgaaacagagagtaatgtggattctgaatttgcacggactcagtttgaggatcttgttccctcaccaacctctgaaaaggcttttctagcgcaaatccatgcccgaaaacctgggtacattcacagtggagctaccacaagtaccatgcgtggcgacatggttacggaggatgcagatccctatgtgcagcctgaagatgaaaactatgaaaatgactctgtccggcagctggagaatgagctccagatggaggaatacctgaaacagaagctgcaagatgaagcttatcaggtcagcttgcaaggttgaatgcaatatccttttatcacactcctctcaagcaagctatagtcagacagatgatgaaagtaacatgaaaactggtgatgatggagagccctgtggccacacagaggaggaagacagcagcctggcagcagcctcaccgaagagaggaaccaccacacccagcagctcctgacagacccccacccctaaagatgtgtcctgatgactatagtgcagctaactttttgttctcagatttgtagtgcataggtgtgtgtttcaagaaggaaaaaaaaagacttctgttcaaagttaacttatcagctacatcctctgtaacgtggttcatccctggttaaaaagcaaacaaacacaggctgaaaacccatgctgctgttatacacaatggcagtattaacaagcattttaaacctttgcacatgatattgaacctgttcagtttacaatgacaatattaatactgtttatagctagaagtttgatttctgaattctttgagattttagcaaaacagtttattatacactgtacatttttttcacagcaattggaaaaaaacaaccacttgcaatcattcaataaccctgaagaatttggttcctgagtgtacaaactcagagcccggaagccaagaagggtccttggcctgcacggtctgtagttgactccaagtctctgtgagcagtgacttgaaccaaacacaccaggaataatccattctttggggcctctttccaactcgaggttgttttctttcaagatactctaatcagccatagaatttagtgtaaatatttttttttccaaatagatatcatattcaaaaaaggcagcattcaaattatatagaatctagtttttaaaatcagcacagatcttcttaaaaactgtgaactatgttttgaaatactcgttactaaagctgtttataaaccacaggtgccataagatccccaaacggactaaagttatctctgctcttccatggtcttgttcctctcgttttggctttaggaagcatgtctttaacagcaccgctcgttcacaagttcccccatcaagttgtttggaggccttcagctttaaatgtacaggcttaaagtgcgcttgcaaacgtttgctctcctttttttctgaatgttgattgccttagctggccacctggtgttctgcatgtagccttctgtggtcatgtgaaaggagacaggctcttctaagttgagttgggatttttgcactcagtgaaaagctgaagtgcaaaagagctatcaaagacaagaggataaaagactgggatagtcttttccaaggaccctctttagagggccctaaagacctcctttgggaattctggggaaaaagaaaaagtaatcttctacttgcttcaagatttgatttttttaaaaaagcctgcgacctattcaatacattatgcttaaattagcagtttctctggaattcctgtctctcctttaaaagaaaggagagaacattttagaacaatagttctcaaagtgtgttccccggacaagcagcatctgcaacacttaggaaggtcttcgaaatactaatttgtaagccccacctcaggcctactgaatcagaagctctgggggttgggtccagaagtctgttttagtcaaccctctaggtgattctgatgctcgctaaaggttgagaactactgctttagaatgaagtcgtataataaagtctctgaaaaggccttattcagaataagcaagaaaggttctgtgattcacttttgcttctggggctggcaaaaaccttctctgaacccacacaccaagttcgtagttggtaggtgcccagccaagtcctgacatcttcatgccccctctgcagagggcggctgtacgatgttcacatgtctgcgtttggtcagacatcatctccttggctgccctttgaaaccaaatcacttgccttggggataaagtgctcaattggcattagtgagaagcccatcctatcccttgacatacttaatcatatatctctccagagaactcacctgacaaatgtctctgagcacaggctgacaccaaagtggcacaactgcacagttctcagatttctttgcacagattgatttttattgcgggttttgttggggtgtcttaatgttcatctcttttccactgcccatcctctgtgaacccatacctctctagatggagcaggtggccactggtgcctcatactcagtattgaaaaccactacatcccagctacctataatgctgtcagctcaaaatcatagccaggtagttcttgaactcagaacttaaatcctgcacgtggcactccaccactgactggaccgagctggcatatgttgtttctttgtgtttctacatcaaaatgttcgtctaagatttgaactgttctgctgataaccttccccgttgtcatagctatttcattgccaaccaactccatcacatggttgttgatatcgtcatataaagccattgcaaggactctggaaactgccgccaatgaccaatttctgactaaccagccaccttttctctctcttagctccacgtcagcactgagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttggggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctgttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttgcgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgatagcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatggaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtcaggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaatgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaactgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgcatgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctttgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacctttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactccactgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaagtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttgacaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattgtaaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtgtgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaactatttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaaaaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgtggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattgatggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatggtttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgctatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaacatatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattctttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttgttgaattactgaataaatgaattagtggtg
//
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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