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Homo sapiens desmin (DES), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001927 Homo sapiens desmin (DES), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_001927.3, 55749931
Length 2268 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens desmin (DES), mRNA.
Product desmin
Comment

Summary: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008].

RefSeq NP_001918.3
CDS 87..1499
Misc Feature(1)87..407
Misc Feature(2)87..407
Misc Feature(3)111..404
Misc Feature(4)120..122
Misc Feature(5)120..122
Misc Feature(6)135..137
Misc Feature(7)135..137
Misc Feature(8)264..266
Misc Feature(9)264..266
Misc Feature(10)312..314
Misc Feature(11)315..317
Misc Feature(12)405..1331
Misc Feature(13)408..1319
Misc Feature(14)1320..1493
Exon (1)1..664
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (2)665..725
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (3)726..821
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (4)822..983
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (5)984..1109
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (6)1110..1330
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (7)1331..1374
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (8)1375..1457
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Exon (9)1458..2248
Gene:DES
Gene Synonym:CSM1; CSM2; LGMD2R
Translation MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTS GGAGGLGSLRASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFA NYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
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Position Chain Variation Link
14+dbSNP:
14+a, gdbSNP:371380520
14+, gdbSNP:35731749
43+a, gdbSNP:184826121
91+g, tdbSNP:58999456
104+a, gdbSNP:199972656
121+c, tdbSNP:267607495
124+c, tdbSNP:62636495
132+c, tdbSNP:60798368
146+c, gdbSNP:1058253
149+c, tdbSNP:201458068
154+g, tdbSNP:3903257
161+a, gdbSNP:1318299
179+c, tdbSNP:2017800
200+a, g, tdbSNP:368901105
213+a, gdbSNP:397516689
223+a, c, tdbSNP:60794845
225+a, gdbSNP:79060489
256+c, tdbSNP:372825868
269+a, cdbSNP:2854887
279+a, gdbSNP:397516692
302+a, cdbSNP:375719734
329+c, tdbSNP:201594392
336+a, gdbSNP:200545412
363+c, tdbSNP:377451653
368+c, gdbSNP:397516693
372+g, tdbSNP:201190593
408+a, gdbSNP:62636490
410+a, gdbSNP:138677215
414+c, gdbSNP:373081285
424..425+, agdbSNP:267607497
426..428+, gagdbSNP:267607493
433+a, gdbSNP:267607499
453+a, gdbSNP:376048590
455+c, gdbSNP:2666105
458+a, gdbSNP:34365369
466+c, gdbSNP:397516694
488+a, gdbSNP:369297392
493+a, tdbSNP:397516695
494+c, tdbSNP:111828114
603..623+, cgcgcgcgcgtcgacgtcgagdbSNP:60538473
668+dbSNP:
668+a, gdbSNP:397516696
695+a, cdbSNP:369495436
709+c, tdbSNP:373062962
721+a, gdbSNP:144261171
724+c, tdbSNP:41272699
725+a, gdbSNP:377337947
728+dbSNP:
728+c, tdbSNP:370239228
729+a, gdbSNP:144908941
742+c, tdbSNP:144901249
750+c, tdbSNP:374687448
751+a, gdbSNP:367961979
755+c, tdbSNP:75882680
766+a, gdbSNP:141486420
767+c, tdbSNP:113288175
776+a, gdbSNP:142145822
791+a, gdbSNP:370836572
795+a, gdbSNP:397516697
796+c, tdbSNP:374144840
806..807+, adbSNP:57659464
807+a, gdbSNP:201945924
821+c, gdbSNP:267607486
822+dbSNP:
822+a, gdbSNP:144057476
826..827+, adbSNP:35419667
829+a, gdbSNP:375906682
871+a, tdbSNP:147327878
878+c, tdbSNP:150370918
907+c, g, tdbSNP:267607494
911+a, gdbSNP:369144706
914+c, tdbSNP:1058261
923+c, tdbSNP:372532465
941+a, gdbSNP:139818514
971+a, gdbSNP:146755676
979+c, tdbSNP:62636491
1009+dbSNP:
1009+a, gdbSNP:375709017
1020+a, gdbSNP:34337334
1021+a, cdbSNP:148947510
1064+c, tdbSNP:375238266
1066+a, cdbSNP:397516700
1079+c, tdbSNP:200858541
1081+c, tdbSNP:368453327
1095+a, c, gdbSNP:59962885
1097+c, tdbSNP:369537705
1099+g, tdbSNP:57496341
1100+c, gdbSNP:12920
1110+dbSNP:
1110+a, gdbSNP:267607482
1112+c, tdbSNP:61731508
1120+c, tdbSNP:57639980
1133+a, gdbSNP:375005961
1134+c, tdbSNP:62636492
1135+c, gdbSNP:57965306
1150+c, gdbSNP:61368398
1155+c, gdbSNP:58898021
1161..1169+, gaggccagtdbSNP:58409037
1164+c, gdbSNP:121913000
1165+c, tdbSNP:141592925
1182..1184+, aacdbSNP:58687088
1185+a, tdbSNP:62636494
1189+c, tdbSNP:371830218
1190+a, gdbSNP:1058284
1195+c, tdbSNP:59308628
1209+c, tdbSNP:375218723
1212+c, tdbSNP:57404866
1219+a, cdbSNP:202010947
1240+c, tdbSNP:57955682
1242+c, tdbSNP:369765867
1252+a, cdbSNP:121913004
1261+c, tdbSNP:62636493
1264+a, tdbSNP:121913001
1281+g, tdbSNP:61130669
1287+a, gdbSNP:57694264
1295+c, tdbSNP:200054661
1302+c, tdbSNP:121913003
1312+c, tdbSNP:397516687
1313+a, gdbSNP:143954788
1323+a, gdbSNP:61726467
1336+dbSNP:
1336+a, gdbSNP:376141178
1341+c, tdbSNP:62635763
1343+c, tdbSNP:143154982
1346+c, tdbSNP:397516688
1358+c, tdbSNP:370720293
1366+a, gdbSNP:142712150
1367+c, tdbSNP:17853018
1371+c, tdbSNP:150974575
1372+a, gdbSNP:200580581
1411+dbSNP:
1411+c, tdbSNP:121913005
1419+a, gdbSNP:267607498
1420+c, tdbSNP:147803084
1432+a, cdbSNP:267607485
1439+c, g, tdbSNP:121913002
1444+c, tdbSNP:267607488
1446+c, tdbSNP:267607490
1452+a, gdbSNP:397516690
1456+a, tdbSNP:267607496
1461+dbSNP:
1461+a, gdbSNP:73991549
1465+g, tdbSNP:267607491
1472+c, gdbSNP:1135931
1484+a, gdbSNP:371644801
1490+a, gdbSNP:397516691
1491+a, gdbSNP:267607487
1510+c, tdbSNP:369913496
1550+a, cdbSNP:372291142
complement(1807)-c, adbSNP:140222667
1842+c, tdbSNP:1058616
1860+c, tdbSNP:150319065
1942+a, tdbSNP:1058876
1967+g, tdbSNP:73085265
1974+g, tdbSNP:138913201
2160+g, tdbSNP:371079685
2161+a, gdbSNP:116635264
2169+a, cdbSNP:13012557
2180+a, cdbSNP:113832558
2183+c, tdbSNP:181219659
2193+c, tdbSNP:2859788
2242+a, gdbSNP:111793338
Gene SymbolDES
Gene SynonymCSM1; CSM2; LGMD2R
Chromosome2
Locus Map2q35
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001927 Homo sapiens desmin (DES), mRNA. On-demand TBD TBD
Title New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease .
Author Nalini A, Gayathri N, Richard P, Cobo AM and Urtizberea JA.
Journal Neurol India 61 (6), 622-626 (2013)
Title Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure .
Author Chugh S, Ouzounian M, Lu Z, Mohamed S, Li W, Bousette N, Liu PP and Gramolini AO.
Journal Proteomics 13 (15), 2324-2334 (2013)
Title A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies .
Author Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S and Dincer P.
Journal J. Med. Genet. 50 (7), 437-443 (2013)
Title Nebulin binding impedes mutant desmin filament assembly .
Author Baker LK, Gillis DC, Sharma S, Ambrus A, Herrmann H and Conover GM.
Journal Mol. Biol. Cell 24 (12), 1918-1932 (2013)
Title Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle .
Author Ariza A, Coll J, Fernandez-Figueras MT, Lopez MD, Mate JL, Garcia O, Fernandez-Vasalo A and Navas-Palacios JJ.
Journal Hum. Pathol. 26 (9), 1032-1037 (1995)
Title Myofibrillar Myopathy .
Author Selcen,D. and Engel,A.G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dilated Cardiomyopathy Overview .
Author Hershberger,R.E. and Morales,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization .
Author Viegas-Pequignot E, Li ZL, Dutrillaux B, Apiou F and Paulin D.
Journal Hum. Genet. 83 (1), 33-36 (1989)
Title Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development .
Author Li ZL, Lilienbaum A, Butler-Browne G and Paulin D.
Journal Gene 78 (2), 243-254 (1989)
Title Association of spectrin with desmin intermediate filaments .
Author Langley,R.C. Jr. and Cohen,C.M.
Journal J. Cell. Biochem. 30 (2), 101-109 (1986)

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