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2024-03-28 21:07:11, 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:

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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