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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 9, mRNA.


RefSeq Accession Definition Services Price Order
NM_001130976 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 9, mRNA. ORF Sequence $2790.45
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_001130976.1, 195976753
Length 6848 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 9, mRNA.
Product dysferlin isoform 9
Comment

Summary: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008].


Transcript Variant: This variant (9) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (9) with an alternate N-terminus compared to isoform 1.

RefSeq NP_001124448.1
CDS 377..6577
Misc Feature(1)182..184
Misc Feature(2)182..184
Misc Feature(3)434..745
Misc Feature(4)434..745
Misc Feature(5)1025..1354
Misc Feature(6)1283..1498
Misc Feature(7)1514..1996
Misc Feature(8)order(1607..1609,1625..1627,1769..1771,1775..1777,
Misc Feature(9)2414..2611
Misc Feature(10)2690..2917
Misc Feature(11)2957..3133
Misc Feature(12)3170..3340
Misc Feature(13)3788..4174
Misc Feature(14)order(3836..3838,3854..3856,4022..4024,4028..4030)
Misc Feature(15)5069..5440
Misc Feature(16)order(5114..5116,5132..5134,5279..5281,5285..5287,
Misc Feature(17)5771..6166
Misc Feature(18)6473..6535
Exon (1)1..464
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (2)465..520
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (3)521..612
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (4)613..718
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (5)719..833
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (6)834..1039
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (7)1040..1168
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (8)1169..1231
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (9)1232..1282
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (10)1283..1313
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (11)1314..1429
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (12)1430..1556
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (13)1557..1660
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (14)1661..1729
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (15)1730..1773
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (16)1774..1856
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (17)1857..1972
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (18)1973..2086
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (19)2087..2264
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (20)2265..2389
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (21)2390..2496
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (22)2497..2689
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (23)2690..2845
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (24)2846..2977
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (25)2978..3144
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (26)3145..3259
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (27)3260..3365
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (28)3366..3508
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (29)3509..3682
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (30)3683..3776
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (31)3777..3854
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (32)3855..4036
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (33)4037..4177
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (34)4178..4207
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (35)4208..4237
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (36)4238..4339
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (37)4340..4501
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (38)4502..4667
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (39)4668..4744
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (40)4745..4843
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (41)4844..4972
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (42)4973..5128
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (43)5129..5220
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (44)5221..5391
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (45)5392..5534
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (46)5535..5674
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (47)5675..5763
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (48)5764..5859
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (49)5860..6001
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (50)6002..6101
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (51)6102..6280
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (52)6281..6390
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (53)6391..6538
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Exon (54)6539..6848
Gene:DYSF
Gene Synonym:FER1L1; LGMD2B; MMD1
Translation MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLD QGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQ VSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGP GAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPV VKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFV EVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYL SMSKISAPGGEIEVDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRG RLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFE VSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIET QNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSAT HLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIV IWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPMEKVPGARMPVQIRV KLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGKIKLP KDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTD VNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMY YTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRW RRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHL RCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWDQTLIFYEIEIFGEP ATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASF ELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAI EILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPRE ELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGE DVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEA FEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQG PQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELT CTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRD QLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHV LQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLR CIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFP FDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPK PAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAE SEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILWRRFRWAIILFIILF ILLLFLAIFIYAFPNYAAMKLVKPFS
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Position Chain Variation Link
198+a, cdbSNP:6741336
333+c, tdbSNP:199569685
343+g, tdbSNP:192358316
422+a, gdbSNP:140603487
501+dbSNP:
501+g, tdbSNP:199772109
574+dbSNP:
574+c, tdbSNP:182555653
576..577+at, tgdbSNP:121908957
578+c, gdbSNP:114986640
580+a, gdbSNP:143247586
584+a, gdbSNP:186523644
591+a, gdbSNP:192395031
598+a, gdbSNP:200957354
601+a, gdbSNP:143761164
652+dbSNP:
652+c, tdbSNP:138870937
681+a, gdbSNP:201834175
723+dbSNP:
723+c, tdbSNP:199677396
759+c, tdbSNP:34997054
769+a, gdbSNP:34603128
802+c, tdbSNP:115390288
804+a, cdbSNP:139654844
816+a, gdbSNP:113919086
839+dbSNP:
839+a, gdbSNP:200970855
845+a, gdbSNP:151054827
853+c, tdbSNP:201335551
868+a, gdbSNP:141002437
872+a, cdbSNP:142265349
885+g, tdbSNP:34999029
908+a, gdbSNP:143562525
916+g, tdbSNP:185711021
928+c, tdbSNP:201607397
941+c, gdbSNP:13407355
946+a, gdbSNP:35392229
957+a, cdbSNP:201980470
962+a, cdbSNP:146382803
998+a, gdbSNP:150029218
1014+c, tdbSNP:148739795
1026+c, tdbSNP:147876220
1046+dbSNP:
1046+a, gdbSNP:145360241
1052+a, gdbSNP:150345121
1054+a, gdbSNP:201797348
1057+c, tdbSNP:138054675
1074+c, tdbSNP:143053635
1077+a, gdbSNP:141497053
1078+a, gdbSNP:138466537
1083+a, cdbSNP:150917600
1133+c, tdbSNP:149827237
1134+a, gdbSNP:140002194
1165+g, tdbSNP:201550600
1216+dbSNP:
1216+g, tdbSNP:111581279
1225+c, tdbSNP:147675576
1258+dbSNP:
1258+a, tdbSNP:112007817
1270+c, tdbSNP:140809078
1271+a, g, tdbSNP:121908963
1280+c, tdbSNP:184771575
1288+dbSNP:
1288+c, tdbSNP:146687581
1318+dbSNP:
1318+a, gdbSNP:36122356
1345+c, gdbSNP:143370670
1425+c, tdbSNP:115279465
1429+g, tdbSNP:199955501
1496+dbSNP:
1496+c, gdbSNP:150724610
1529+a, gdbSNP:200281572
1561+dbSNP:
1561+c, tdbSNP:147244033
1568+a, gdbSNP:144202114
1591+c, tdbSNP:148697028
1609+a, cdbSNP:143355224
1650+c, tdbSNP:146588926
1651+a, c, gdbSNP:140667960
1687+dbSNP:
1687+a, g, tdbSNP:150093305
1727+a, gdbSNP:141818764
1729+a, gdbSNP:146064054
1738+dbSNP:
1738+c, tdbSNP:200803090
1744+c, tdbSNP:202044973
1745+a, gdbSNP:61740288
1761+a, gdbSNP:199879861
1774+dbSNP:
1774+a, gdbSNP:141400095
1778+c, tdbSNP:185119682
1798+a, gdbSNP:34387018
1824+c, tdbSNP:139258703
1889+dbSNP:
1889+a, gdbSNP:121908962
1906+c, tdbSNP:139495331
1948+a, cdbSNP:180970066
1954+a, gdbSNP:147101870
1964+a, cdbSNP:201443353
1973+dbSNP:
1973+a, gdbSNP:200236226
2001+c, tdbSNP:200916654
2056+c, tdbSNP:199554105
2064+c, tdbSNP:201515915
2065+c, tdbSNP:35984374
2078+c, tdbSNP:149386446
2089+dbSNP:
2089+g, tdbSNP:144675204
2104..2105+, cdbSNP:34644852
2121+c, tdbSNP:146261069
2147+c, tdbSNP:121908953
2161+c, tdbSNP:2303596
2186+a, gdbSNP:201049092
2194+a, gdbSNP:35721373
2200+c, gdbSNP:141080184
2203+a, gdbSNP:147738382
2207+a, g, tdbSNP:121908960
2211+c, tdbSNP:141867897
2224+a, gdbSNP:115849497
2250+a, gdbSNP:150417363
2264+a, gdbSNP:200195517
2296+dbSNP:
2296+c, tdbSNP:199565036
2297+a, gdbSNP:200611218
2300+a, gdbSNP:139754493
2314+a, gdbSNP:138111360
2325+a, cdbSNP:200380100
2339+a, gdbSNP:113450735
2368+g, tdbSNP:200541431
2384+c, tdbSNP:148652047
2387+c, gdbSNP:74423119
2427+dbSNP:
2427+c, tdbSNP:145007061
2428+a, gdbSNP:201239189
2431+a, gdbSNP:149864346
2447+a, gdbSNP:182450244
2496+a, gdbSNP:143304754
2506+dbSNP:
2506+a, gdbSNP:145868833
2537+a, cdbSNP:202123283
2545+c, tdbSNP:143773517
2557+c, tdbSNP:200188905
2564+c, tdbSNP:181551438
2596+c, tdbSNP:141314294
2614+c, tdbSNP:116204385
2615+a, gdbSNP:138654170
2642+c, gdbSNP:147412635
2666+c, tdbSNP:143568054
2667+a, gdbSNP:185891286
2682+c, tdbSNP:147139414
2706+dbSNP:
2706+c, gdbSNP:121908956
2707+a, gdbSNP:139422989
2757+a, gdbSNP:35297901
2762+a, cdbSNP:146819460
2764+c, tdbSNP:143667543
2828+c, tdbSNP:199543257
2834+c, tdbSNP:34671418
2851+dbSNP:
2851+g, tdbSNP:200494473
2861+g, tdbSNP:201754947
2870+a, gdbSNP:143632564
2873+c, tdbSNP:200487610
2902+a, gdbSNP:191337920
2917+a, tdbSNP:2288355
2922+g, tdbSNP:35884879
2923+g, tdbSNP:146153109
2948+a, gdbSNP:200049922
2980+dbSNP:
2980+c, tdbSNP:149979662
3002+c, tdbSNP:141264366
3005+a, gdbSNP:201622087
3009+a, gdbSNP:201178528
3037+c, tdbSNP:200439327
3097+a, gdbSNP:148902254
3103+c, tdbSNP:138212696
3127+c, tdbSNP:146006518
3135+c, tdbSNP:150717638
3136+c, tdbSNP:34836829
3144+c, tdbSNP:201209494
3163+dbSNP:
3163+c, tdbSNP:143775913
3208+c, gdbSNP:148531939
3209+c, tdbSNP:202218890
3217+c, tdbSNP:192717273
3218+a, gdbSNP:151064013
3236+a, tdbSNP:144636654
3254+a, gdbSNP:200422222
3262+dbSNP:
3262+c, tdbSNP:142404822
3282+g, tdbSNP:34061568
3331+g, tdbSNP:28937581
3356+a, gdbSNP:200943384
3367+dbSNP:
3367+c, gdbSNP:36077172
3391+c, tdbSNP:143475751
3399+c, tdbSNP:34211915
3414+c, gdbSNP:142289638
3447+a, gdbSNP:150877497
3450+a, gdbSNP:149617331
3451+a, gdbSNP:200311551
3455+c, tdbSNP:144598063
3456..3457+, adbSNP:34551069
3471+a, gdbSNP:121908958
3492+g, tdbSNP:199679773
3509+dbSNP:
3509+c, tdbSNP:147886481
3515+c, gdbSNP:202034789
3519+c, tdbSNP:142193283
3525+c, tdbSNP:200637035
3528+c, tdbSNP:200332119
3547+c, tdbSNP:150355624
3548+c, gdbSNP:34660230
3577+c, tdbSNP:144936357
3578+c, gdbSNP:144599077
3583+c, tdbSNP:201477760
3612+c, gdbSNP:111488441
3617+c, tdbSNP:141536854
3620+c, tdbSNP:148171293
3621+a, gdbSNP:59915619
3623+c, tdbSNP:147483765
3646+a, gdbSNP:149986783
3648+a, gdbSNP:148489131
3677+a, gdbSNP:200334333
3686+dbSNP:
3686+a, gdbSNP:202000264
3688+c, tdbSNP:146498307
3689+a, gdbSNP:144634077
3722+a, gdbSNP:148925399
3756+c, tdbSNP:140058659
3781+dbSNP:
3781+a, gdbSNP:138317526
3785+c, tdbSNP:200719174
3821+a, gdbSNP:139194093
3832+a, gdbSNP:201319864
3868+dbSNP:
3868+c, tdbSNP:79899601
3881+c, tdbSNP:150623923
3887+a, gdbSNP:139194366
3940+a, gdbSNP:139897804
3952+c, tdbSNP:143393575
3958+c, g, tdbSNP:148858485
3975+c, tdbSNP:150942486
3976+a, gdbSNP:139364929
3997+a, gdbSNP:150444588
4026+a, gdbSNP:79608837
4036+c, tdbSNP:141720146
4059+dbSNP:
4059+a, gdbSNP:2303603
4064+a, gdbSNP:200942650
4094+c, tdbSNP:146970014
4105+c, gdbSNP:141420226
4116+c, tdbSNP:202013788
4122+c, gdbSNP:200330006
4132+a, gdbSNP:139983909
4187+dbSNP:
4187+c, tdbSNP:202061751
4226+dbSNP:
4226+a, gdbSNP:121908954
4234+a, tdbSNP:201998440
4248+dbSNP:
4248+a, cdbSNP:116426399
4250+a, gdbSNP:149023297
4285+c, tdbSNP:201966225
4301+c, gdbSNP:147950418
4306+a, gdbSNP:11558179
4307+a, gdbSNP:145401010
4317+c, tdbSNP:201476613
4326+g, tdbSNP:61742872
4330+c, tdbSNP:138751942
4334+a, gdbSNP:146242836
4342+dbSNP:
4342+a, cdbSNP:2303606
4358+c, tdbSNP:199870606
4386+a, gdbSNP:139529811
4402+c, tdbSNP:2303607
4423+c, tdbSNP:145412880
4428+c, tdbSNP:149182447
4532+dbSNP:
4532+c, g, tdbSNP:151268930
4533+c, gdbSNP:138268837
4534+c, tdbSNP:142769942
4559+c, tdbSNP:138097846
4621+a, gdbSNP:144072850
4629+a, cdbSNP:142776870
4635+c, tdbSNP:139411595
4652+c, tdbSNP:151109021
4657+a, gdbSNP:76576806
4669+dbSNP:
4669+c, tdbSNP:61746816
4708+c, tdbSNP:145690047
4710+a, gdbSNP:61738567
4759+dbSNP:
4759+c, tdbSNP:148055736
4814+c, tdbSNP:150139276
4825+g, tdbSNP:182185801
4836+a, cdbSNP:200809348
4838+c, tdbSNP:7573406
4843+a, gdbSNP:199861501
4844+dbSNP:
4844+a, gdbSNP:143895253
4846+c, gdbSNP:142483266
4890+a, cdbSNP:201226634
4911+a, cdbSNP:76086153
4920+a, gdbSNP:191383034
4929+c, tdbSNP:144422408
4997+dbSNP:
4997+c, tdbSNP:149768871
5009+a, gdbSNP:146213322
5048+a, gdbSNP:143163327
5065+a, gdbSNP:62145939
5076+a, gdbSNP:185596534
5128+g, tdbSNP:141704244
5153+dbSNP:
5153+a, gdbSNP:138357301
5154+c, tdbSNP:146384562
5191+a, cdbSNP:113744167
5199+c, tdbSNP:144383140
5200+g, tdbSNP:142301132
5210+a, gdbSNP:147056383
5227+dbSNP:
5227+c, tdbSNP:151276652
5239+c, tdbSNP:149989207
5275+a, cdbSNP:141476432
5311+c, tdbSNP:149087116
5319+c, tdbSNP:143059463
5360+g, tdbSNP:141137410
5364+a, gdbSNP:138472236
5397+dbSNP:
5397+c, gdbSNP:146153532
5433+a, tdbSNP:149408006
5438+c, gdbSNP:11558178
5453+c, gdbSNP:199827126
5483+c, tdbSNP:148541407
5493+a, gdbSNP:147678255
5535+dbSNP:
5535+a, gdbSNP:121908961
5550+a, cdbSNP:145272777
5578+a, gdbSNP:140812535
5637+a, gdbSNP:148860301
5641+c, tdbSNP:137855767
5650+c, tdbSNP:200879908
5695+dbSNP:
5695+c, tdbSNP:145143725
5705+c, tdbSNP:145832952
5715+c, tdbSNP:148382335
5720+c, tdbSNP:139879284
5826+dbSNP:
5826+c, tdbSNP:199649417
5831+a, gdbSNP:201592500
5847+c, tdbSNP:191052325
5904+dbSNP:
5904+a, gdbSNP:199601326
5910+a, gdbSNP:143939123
5960+a, gdbSNP:115013641
6047+dbSNP:
6047+c, tdbSNP:121908959
6125+dbSNP:
6125+c, tdbSNP:144116735
6162+c, gdbSNP:142160134
6163+c, gdbSNP:140341988
6193+a, c, tdbSNP:17718530
6216+c, tdbSNP:11558176
6252+c, tdbSNP:201784424
6280+a, gdbSNP:138936064
6299+dbSNP:
6299+c, tdbSNP:188223743
6317+a, cdbSNP:201890095
6332+c, tdbSNP:149357145
6333+a, gdbSNP:115407852
6350+c, tdbSNP:200921075
6371+g, tdbSNP:11558177
6391+dbSNP:
6391+a, gdbSNP:143762717
6397+c, tdbSNP:147263499
6406+a, cdbSNP:200994941
6455+c, tdbSNP:200990851
6458+c, tdbSNP:121908955
6464+c, tdbSNP:185617318
6473+a, gdbSNP:150834671
6500+c, tdbSNP:201725164
6537+c, tdbSNP:149732545
6538+a, gdbSNP:139267208
6604+dbSNP:
6604+c, tdbSNP:199573560
6630+a, gdbSNP:114777968
6672+a, cdbSNP:1802426
6684+a, tdbSNP:11903223
6776+g, tdbSNP:13429381
6844+c, gdbSNP:181677134
Gene SymbolDYSF
Gene SynonymFER1L1; LGMD2B; MMD1
Chromosome2
Locus Map2p13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001130455 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 2, mRNA. Full Length $3006.90
ORF Sequence $2810.70
NM_001130976 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 9, mRNA. Full Length $3081.60
ORF Sequence $2790.45
NM_001130977 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 10, mRNA. Full Length $3109.95
ORF Sequence $2818.80
NM_001130978 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 11, mRNA. Full Length $3128.85
ORF Sequence $2837.70
NM_001130979 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 12, mRNA. Full Length $3142.35
ORF Sequence $2851.20
NM_001130980 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 13, mRNA. Full Length $3123.45
ORF Sequence $2832.30
NM_001130981 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 14, mRNA. Full Length $3151.80
ORF Sequence $2860.65
NM_001130982 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 7, mRNA. Full Length $3048.75
ORF Sequence $2852.55
NM_001130983 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 6, mRNA. Full Length $3024.45
ORF Sequence $2839.05
NM_001130984 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 5, mRNA. Full Length $3005.55
ORF Sequence $2820.15
NM_001130985 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 4, mRNA. Full Length $3019.05
ORF Sequence $2833.65
NM_001130986 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 3, mRNA. Full Length $2977.20
ORF Sequence $2791.80
NM_001130987 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. Full Length $3047.40
ORF Sequence $2862.00
NM_003494 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 8, mRNA. Full Length $3111.30
ORF Sequence $2809.35
Title Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules .
Author Azakir,B.A., Di Fulvio,S., Salomon,S., Brockhoff,M., Therrien,C. and Sinnreich,M.
Journal J. Biol. Chem. 287 (33), 27629-27636 (2012)
Title Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy .
Author Park,Y.E., Kim,H.S., Lee,C.H., Nam,T.S., Choi,Y.C. and Kim,D.S.
Journal Neuromuscul. Disord. 22 (6), 505-510 (2012)
Title Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells .
Author Azakir,B.A., Di Fulvio,S., Kinter,J. and Sinnreich,M.
Journal J. Biol. Chem. 287 (13), 10344-10354 (2012)
Title Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer .
Author Grose,W.E., Clark,K.R., Griffin,D., Malik,V., Shontz,K.M., Montgomery,C.L., Lewis,S., Brown,R.H. Jr., Janssen,P.M., Mendell,J.R. and Rodino-Klapac,L.R.
Journal PLoS ONE 7 (6), E39233 (2012)
Title Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy .
Author Gallardo,E., de Luna,N., Diaz-Manera,J., Rojas-Garcia,R., Gonzalez-Quereda,L., Flix,B., de Morree,A., van der Maarel,S. and Illa,I.
Journal PLoS ONE 6 (12), E29061 (2011)
Title Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s) .
Author Weiler,T., Bashir,R., Anderson,L.V., Davison,K., Moss,J.A., Britton,S., Nylen,E., Keers,S., Vafiadaki,E., Greenberg,C.R., Bushby,C.R. and Wrogemann,K.
Journal Hum. Mol. Genet. 8 (5), 871-877 (1999)
Title Dysferlin is a plasma membrane protein and is expressed early in human development .
Author Anderson,L.V., Davison,K., Moss,J.A., Young,C., Cullen,M.J., Walsh,J., Johnson,M.A., Bashir,R., Britton,S., Keers,S., Argov,Z., Mahjneh,I., Fougerousse,F., Beckmann,J.S. and Bushby,K.M.
Journal Hum. Mol. Genet. 8 (5), 855-861 (1999)
Title A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B .
Author Bashir,R., Britton,S., Strachan,T., Keers,S., Vafiadaki,E., Lako,M., Richard,I., Marchand,S., Bourg,N., Argov,Z., Sadeh,M., Mahjneh,I., Marconi,G., Passos-Bueno,M.R., Moreira Ede,S., Zatz,M., Beckmann,J.S. and Bushby,K.
Journal Nat. Genet. 20 (1), 37-42 (1998)
Title Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy .
Author Liu,J., Aoki,M., Illa,I., Wu,C., Fardeau,M., Angelini,C., Serrano,C., Urtizberea,J.A., Hentati,F., Hamida,M.B., Bohlega,S., Culper,E.J., Amato,A.A., Bossie,K., Oeltjen,J., Bejaoui,K., McKenna-Yasek,D., Hosler,B.A., Schurr,E., Arahata,K., de Jong,P.J. and Brown,R.H. Jr.
Journal Nat. Genet. 20 (1), 31-36 (1998)
Title A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p .
Author Bashir,R., Strachan,T., Keers,S., Stephenson,A., Mahjneh,I., Marconi,G., Nashef,L. and Bushby,K.M.
Journal Hum. Mol. Genet. 3 (3), 455-457 (1994)

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