• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens dysferlin (DYSF), transcript variant 9, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu35621 Homo sapiens dysferlin (DYSF), transcript variant 9, mRNA. pcDNA3.1+-DYK On-demand $3749.00 35
OHu35621C Homo sapiens dysferlin (DYSF), transcript variant 9, mRNA. Customized vector On-demand $3749.00 35

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_001130976.1, 195976753
Length 6201 bp
Structure linear
Update Date 29-JUN-2014
Organism Homo sapiens (human)
Definition Homo sapiens dysferlin (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..775
Misc Feature(4)434..775
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
230+c, tdbSNP:377304723
333+c, tdbSNP:199569685
343+g, tdbSNP:192358316
422+a, gdbSNP:140603487
451+c, tdbSNP:375772222
483..484+dbSNP:
483..484+, aadbSNP:398123764
499+c, tdbSNP:369755508
500+a, gdbSNP:374203339
501+g, tdbSNP:199772109
520+a, gdbSNP:376668684
522+dbSNP:
522+g, tdbSNP:369527668
574+c, tdbSNP:182555653
576..577+at, tgdbSNP:121908957
578+c, gdbSNP:114986640
580+a, gdbSNP:143247586
581+a, gdbSNP:373900375
584+a, gdbSNP:186523644
591+a, gdbSNP:192395031
598+a, gdbSNP:200957354
601+a, gdbSNP:143761164
616+dbSNP:
616+c, tdbSNP:267599437
642+a, gdbSNP:370745710
652+c, tdbSNP:138870937
681+a, gdbSNP:201834175
689+c, tdbSNP:374934430
723+dbSNP:
723+c, tdbSNP:199677396
729+, tdbSNP:398123782
750+c, tdbSNP:372573603
751+a, gdbSNP:377056951
complement(759)-t, cdbSNP:34997054
769..770+, ccdbSNP:398123784
complement(769)-g, adbSNP: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
886+a, gdbSNP:398123791
908+a, gdbSNP:143562525
916+a, g, tdbSNP:185711021
928+c, tdbSNP:201607397
931+c, tdbSNP:267599438
937+a, gdbSNP:267599439
941+c, gdbSNP:13407355
complement(946)-g, adbSNP:35392229
950+c, tdbSNP:369719244
951+a, gdbSNP:373032113
957+a, cdbSNP:201980470
962+a, cdbSNP:146382803
970+c, tdbSNP:376293526
986+c, tdbSNP:373585652
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
1070+c, tdbSNP:374682091
1074+c, tdbSNP:143053635
1077+a, gdbSNP:141497053
1078+a, gdbSNP:138466537
1083+a, cdbSNP:150917600
1091+c, gdbSNP:367785538
1106..1116+accgctgcagg, gccctdbSNP:398123801
1106+a, tdbSNP:371633157
1108+c, tdbSNP:376154300
1113+c, tdbSNP:368409389
1128+a, gdbSNP:372512141
1131+c, tdbSNP:398123802
1133+c, tdbSNP:149827237
1134+a, gdbSNP:140002194
1137+g, tdbSNP:375448108
1140+a, cdbSNP:398123803
1157+c, tdbSNP:398123804
1165+g, tdbSNP:201550600
1168+c, gdbSNP:398123805
1173+dbSNP:
1173+g, tdbSNP:398123806
1216+g, tdbSNP:111581279
1225+c, tdbSNP:147675576
1230+c, tdbSNP:372952394
1233+dbSNP:
1233+a, tdbSNP:398123807
1241+c, tdbSNP:398123808
1258+a, tdbSNP:112007817
1270+c, tdbSNP:140809078
1271+a, g, tdbSNP:121908963
1279+c, tdbSNP:367878277
1280+c, tdbSNP:184771575
1288+dbSNP:
1288+c, tdbSNP:146687581
1318+dbSNP:
1318+a, gdbSNP:36122356
1340+c, tdbSNP:369378511
1345+c, gdbSNP:143370670
1361+c, tdbSNP:372661364
1420+c, tdbSNP:373744398
1425+c, tdbSNP:115279465
1429+g, tdbSNP:199955501
1484+dbSNP:
1484+c, tdbSNP:370775850
1485+a, gdbSNP:375071568
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
1644+c, gdbSNP:371593605
1650+c, tdbSNP:146588926
1651+a, c, gdbSNP:140667960
1659+c, tdbSNP:376144240
1686+dbSNP:
1686+c, tdbSNP:376358025
1687+a, gdbSNP:150093305
1693+a, cdbSNP:398123766
1698+a, gdbSNP:369554086
1727+a, gdbSNP:141818764
1729+a, gdbSNP:146064054
1738+dbSNP:
1738+c, tdbSNP:200803090
1744+a, c, tdbSNP:202044973
1745+a, gdbSNP:61740288
1761+a, gdbSNP:199879861
1768..1769+, adbSNP:398123767
1774+dbSNP:
1774+a, gdbSNP:141400095
1778+c, tdbSNP:185119682
1798+a, gdbSNP:34387018
1824+c, tdbSNP:139258703
1887+dbSNP:
1887+c, tdbSNP:376165381
1889+a, gdbSNP:121908962
1906+c, tdbSNP:139495331
1948+a, cdbSNP:180970066
1954+a, gdbSNP:147101870
1963+c, tdbSNP:374809515
1964+a, cdbSNP:201443353
1973+dbSNP:
1973+a, gdbSNP:200236226
1976+, gdbSNP:398123772
1997+c, tdbSNP:377735262
2001+c, tdbSNP:200916654
2017+a, gdbSNP:370872013
2054+g, tdbSNP:376932915
2056+c, tdbSNP:199554105
2064+c, tdbSNP:201515915
2065+c, tdbSNP:35984374
2078+c, tdbSNP:149386446
2089+dbSNP:
2089+g, tdbSNP:144675204
2103+a, gdbSNP:371210248
2104..2105+, cdbSNP:34644852
2121+c, tdbSNP:146261069
2147+c, tdbSNP:121908953
2161+c, tdbSNP:2303596
2163+c, gdbSNP:374204501
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
2279+dbSNP:
2279+c, tdbSNP:368462679
2296+c, tdbSNP:199565036
2297+a, gdbSNP:200611218
2300+a, gdbSNP:139754493
2314+a, gdbSNP:138111360
2325+a, cdbSNP:200380100
2339+a, gdbSNP:113450735
2342+c, tdbSNP:374034047
2348+a, tdbSNP:367901920
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
2454+c, tdbSNP:376571932
2455+a, gdbSNP:373820597
2496+a, gdbSNP:143304754
2506+dbSNP:
2506+a, gdbSNP:145868833
2519+a, gdbSNP:369209261
2537+a, cdbSNP:202123283
2543+g, tdbSNP:376652699
2545+c, tdbSNP:143773517
2557+c, tdbSNP:200188905
2564+c, tdbSNP:181551438
2596+c, tdbSNP:141314294
2610+a, gdbSNP:372475742
2614+c, tdbSNP:116204385
2615+a, gdbSNP:138654170
2642+c, gdbSNP:147412635
2645+c, tdbSNP:398123773
2657+c, tdbSNP:373115117
2662+c, tdbSNP:376262937
2666+c, tdbSNP:143568054
2667+a, gdbSNP:185891286
2672+c, tdbSNP:377196032
2682+c, tdbSNP:147139414
2706+dbSNP:
2706+c, gdbSNP:121908956
2707+a, gdbSNP:139422989
2714+a, gdbSNP:371609233
2757+a, gdbSNP:35297901
2762+a, cdbSNP:146819460
2764+c, tdbSNP:143667543
2789+c, tdbSNP:371841411
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
complement(2917)-t, adbSNP:2288355
2922+g, tdbSNP:35884879
2923+g, tdbSNP:146153109
2948+a, gdbSNP:200049922
2980+dbSNP:
2980+c, tdbSNP:149979662
2986+c, tdbSNP:398123775
2991+c, gdbSNP:372306918
3002+c, tdbSNP:141264366
3005+a, gdbSNP:201622087
3009+a, gdbSNP:201178528
3037+c, tdbSNP:200439327
3097+a, gdbSNP:148902254
3100+c, tdbSNP:373328706
3103+c, tdbSNP:138212696
3127+c, tdbSNP:146006518
3135+c, tdbSNP:150717638
3136+c, tdbSNP:34836829
3144+c, tdbSNP:201209494
3151+dbSNP:
3151+a, cdbSNP:373185538
3163+c, tdbSNP:143775913
3203+c, tdbSNP:398123776
3204..3208+, agaccdbSNP:398123777
3208+c, gdbSNP:148531939
3209+c, tdbSNP:202218890
3217+c, tdbSNP:192717273
3218+a, gdbSNP:151064013
3236+a, tdbSNP:144636654
3253+c, tdbSNP:373937234
3254+a, gdbSNP:200422222
3262+dbSNP:
3262+c, tdbSNP:142404822
3280+a, cdbSNP:368460619
3282+g, tdbSNP:34061568
3297+g, tdbSNP:370725256
3310+a, gdbSNP:267599440
3331+g, tdbSNP:28937581
3356+a, gdbSNP:200943384
3367+dbSNP:
3367+c, gdbSNP:36077172
3388+c, tdbSNP:368033221
3391+c, tdbSNP:143475751
3394+a, gdbSNP:398123778
3399+c, tdbSNP:34211915
3405+c, tdbSNP:372880553
3406+a, gdbSNP:377235191
3414+c, gdbSNP:142289638
3446+a, cdbSNP:369607332
3447+a, gdbSNP:150877497
3450+a, gdbSNP:149617331
3451+a, gdbSNP:200311551
3453+a, gdbSNP:372226487
3455+c, tdbSNP:144598063
3456..3457+, adbSNP:34551069
3471+a, gdbSNP:121908958
3492+g, tdbSNP:199679773
3509+dbSNP:
3509+c, tdbSNP:147886481
3515..3516+, aggcggdbSNP:373644336
3515+c, gdbSNP:202034789
3525+c, tdbSNP:200637035
3528+c, tdbSNP:200332119
3530..3531+, cggaggdbSNP:398123779
3547+c, tdbSNP:150355624
complement(3548)-g, cdbSNP:34660230
3577+c, tdbSNP:144936357
3578+c, gdbSNP:144599077
3583+c, tdbSNP:201477760
3585+a, gdbSNP:369345918
3602+c, tdbSNP:377079619
3611+c, tdbSNP:372817333
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
3661..3662+, gtdbSNP:398123780
3677+a, gdbSNP:200334333
3685+dbSNP:
3685+c, tdbSNP:367845844
3686+a, gdbSNP:202000264
3688+c, tdbSNP:146498307
3689+a, gdbSNP:144634077
3722+a, gdbSNP:148925399
3756+c, tdbSNP:140058659
3772+c, tdbSNP:377407750
3778..3779+dbSNP:
3778..3779+aa, tgdbSNP:398123781
3781+a, gdbSNP:138317526
3785+c, tdbSNP:200719174
3792+a, gdbSNP:369787216
3797+c, tdbSNP:372297758
3798+a, gdbSNP:376882262
3821+a, gdbSNP:139194093
3830+g, tdbSNP:369341163
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+, cdbSNP:398123783
3975+c, tdbSNP:150942486
3976+a, gdbSNP:139364929
3996+c, tdbSNP:368556029
3997+a, gdbSNP:150444588
4021+c, tdbSNP:375160101
complement(4026)-g, adbSNP:79608837
4036+c, tdbSNP:141720146
4058+dbSNP:
4058+c, tdbSNP:369170272
4059+a, gdbSNP:2303603
4064+a, gdbSNP:200942650
4089+c, tdbSNP:373421559
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
4196+c, gdbSNP:370620594
4208+dbSNP:
4208+c, gdbSNP:367635287
4214+a, gdbSNP:371437341
4226+a, gdbSNP:121908954
4234+a, tdbSNP:201998440
4248+dbSNP:
4248+a, cdbSNP:116426399
4250+a, gdbSNP:149023297
4285+c, tdbSNP:201966225
4291+c, tdbSNP:375089595
4301+c, gdbSNP:147950418
4305+a, cdbSNP:368907398
complement(4306)-g, adbSNP: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
4342+g, tdbSNP:386564415
4358+c, tdbSNP:199870606
4386+a, gdbSNP:139529811
4394..4396+, tccdbSNP:398123785
4402+c, tdbSNP:2303607
4423+c, tdbSNP:145412880
4428+c, tdbSNP:149182447
4457+c, tdbSNP:368601323
4529+dbSNP:
4529+c, gdbSNP:376134165
4532+c, gdbSNP:151268930
4533+c, gdbSNP:138268837
4534..4535+, cdbSNP:398123786
4534+c, tdbSNP:142769942
4559+c, tdbSNP:138097846
4587+a, gdbSNP:398123787
4601+c, tdbSNP:377706756
4620+c, tdbSNP:374346440
4621+a, gdbSNP:144072850
4629+a, cdbSNP:142776870
4635+c, tdbSNP:139411595
4636+a, gdbSNP:368451006
4639+a, gdbSNP:371816429
4652+c, tdbSNP:151109021
4657+a, gdbSNP:76576806
4669+dbSNP:
4669+c, tdbSNP:61746816
4699+c, tdbSNP:374705038
4703+c, tdbSNP:367709130
4705+c, tdbSNP:371231895
4708+a, gdbSNP:386436927
4708+c, tdbSNP:145690047
4710+a, gdbSNP:61738567
4730+a, cdbSNP:375465887
4759+dbSNP:
4759+c, tdbSNP:148055736
4773+a, cdbSNP:398123788
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
4919+c, tdbSNP:375698433
4920+a, gdbSNP:191383034
4929+c, tdbSNP:144422408
4930+a, gdbSNP:369750372
4997+dbSNP:
4997+c, tdbSNP:149768871
5009+a, gdbSNP:146213322
5047+c, tdbSNP:375485030
5048+a, gdbSNP:143163327
5065+a, gdbSNP:62145939
5076+a, gdbSNP:185596534
5090+c, tdbSNP:398123789
5128+g, tdbSNP:141704244
5140+dbSNP:
5140+c, tdbSNP:376679461
5153+a, gdbSNP:138357301
5154+c, tdbSNP:146384562
5191+a, cdbSNP:113744167
5199+c, tdbSNP:144383140
5200+g, tdbSNP:142301132
5209+c, tdbSNP:369004367
5210+a, gdbSNP:147056383
5227+dbSNP:
5227+c, tdbSNP:151276652
5228+g, tdbSNP:398123790
5239+c, tdbSNP:149989207
5245+a, gdbSNP:368302435
5275+a, cdbSNP:141476432
5302+c, tdbSNP:375326769
5303+a, gdbSNP:368142107
5306+a, gdbSNP:372041611
5311+c, tdbSNP:149087116
5312+a, gdbSNP:375068646
5319+c, tdbSNP:143059463
5360+g, tdbSNP:141137410
5364+a, gdbSNP:138472236
5397+dbSNP:
5397+c, gdbSNP:146153532
5433+a, tdbSNP:149408006
complement(5438)-g, cdbSNP: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
5606+c, gdbSNP:370866476
5619+c, tdbSNP:371189093
5626+c, tdbSNP:375787986
5637+a, gdbSNP:148860301
5641+c, tdbSNP:137855767
5650+c, tdbSNP:200879908
5695+dbSNP:
5695+c, tdbSNP:145143725
5705+c, tdbSNP:145832952
5706+c, tdbSNP:374701208
5715+c, tdbSNP:148382335
5720+c, tdbSNP:139879284
5739+a, gdbSNP:372204057
5743+c, tdbSNP:375696757
5750+c, tdbSNP:369627849
5775+dbSNP:
5775+a, gdbSNP:372895279
5813+a, gdbSNP:371397113
5826+c, tdbSNP:199649417
5831+a, g, tdbSNP:201592500
5843+a, gdbSNP:398123794
5847+c, tdbSNP:191052325
5862+dbSNP:
5862+a, gdbSNP:267599441
5865+c, tdbSNP:376744993
5904+a, gdbSNP:199601326
5910+a, gdbSNP:143939123
5960+a, gdbSNP:115013641
5978+c, tdbSNP:398123795
6013+dbSNP:
6013+a, gdbSNP:267599442
6032..6033+, agdbSNP:398123796
6047+c, tdbSNP:121908959
6125+dbSNP:
6125+c, tdbSNP:144116735
6132+c, tdbSNP:376686637
6133+c, gdbSNP:375483537
6162+c, gdbSNP:142160134
6163+c, gdbSNP:140341988
6170..6173+, cagcdbSNP:398123797
6193+a, c, tdbSNP:17718530
complement(6216)-t, cdbSNP:11558176
6252+c, tdbSNP:201784424
6280+a, gdbSNP:138936064
6299+dbSNP:
6299+c, tdbSNP:188223743
6313..6314+, adbSNP:398123799
6317+a, cdbSNP:201890095
6322+a, gdbSNP:373445062
6323+c, tdbSNP:377457322
6332+c, tdbSNP:149357145
6333+a, gdbSNP:115407852
6350+c, tdbSNP:200921075
complement(6371)-t, gdbSNP:11558177
6391+dbSNP:
6391+a, gdbSNP:143762717
6392+c, tdbSNP:370286628
6397+c, tdbSNP:147263499
6406+a, cdbSNP:200994941
6427+a, tdbSNP:372244975
6451+a, gdbSNP:376588911
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
6652+c, tdbSNP:374833260
6655+c, tdbSNP:367543759
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 Stock Status Price Turnaround time Business Day Select
NM_001130981 Homo sapiens dysferlin (DYSF), transcript variant 14, mRNA. On-demand $3749.00 35
NM_001130984 Homo sapiens dysferlin (DYSF), transcript variant 5, mRNA. On-demand $3749.00 35
NM_001130987 Homo sapiens dysferlin (DYSF), transcript variant 1, mRNA. On-demand $3749.00 35
NM_001130980 Homo sapiens dysferlin (DYSF), transcript variant 13, mRNA. On-demand $3749.00 35
NM_001130977 Homo sapiens dysferlin (DYSF), transcript variant 10, mRNA. On-demand $3749.00 35
NM_001130982 Homo sapiens dysferlin (DYSF), transcript variant 7, mRNA. On-demand $3749.00 35
NM_001130455 Homo sapiens dysferlin (DYSF), transcript variant 2, mRNA. On-demand $3749.00 35
NM_001130978 Homo sapiens dysferlin (DYSF), transcript variant 11, mRNA. On-demand $3749.00 35
NM_001130979 Homo sapiens dysferlin (DYSF), transcript variant 12, mRNA. On-demand $3749.00 35
NM_001130986 Homo sapiens dysferlin (DYSF), transcript variant 3, mRNA. On-demand $3749.00 35
NM_001130983 Homo sapiens dysferlin (DYSF), transcript variant 6, mRNA. On-demand $3749.00 35
NM_001130985 Homo sapiens dysferlin (DYSF), transcript variant 4, mRNA. On-demand $3749.00 35
NM_003494 Homo sapiens dysferlin (DYSF), transcript variant 8, mRNA. On-demand $3749.00 35
NM_001130976 Homo sapiens dysferlin (DYSF), transcript variant 9, mRNA. On-demand $3749.00 35
XM_005264584 PREDICTED: Homo sapiens dysferlin (DYSF), transcript variant X1, mRNA. On-demand $3749.00 35
XM_005264585 PREDICTED: Homo sapiens dysferlin (DYSF), transcript variant X2, mRNA. On-demand $3749.00 35
Title Dysferlin is a newly identified binding partner of AbetaPP and it co-aggregates with amyloid-beta42 within sporadic inclusion-body myositis (s-IBM) muscle fibers .
Author Cacciottolo M, Nogalska A, D'Agostino C, Engel WK and Askanas V.
Journal Acta Neuropathol. 126 (5), 781-783 (2013)
Title The C2 domains of otoferlin, dysferlin, and myoferlin alter the packing of lipid bilayers .
Author Marty NJ, Holman CL, Abdullah N and Johnson CP.
Journal Biochemistry 52 (33), 5585-5592 (2013)
Title Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle .
Author Flix B, de la Torre C, Castillo J, Casal C, Illa I and Gallardo E.
Journal Int. J. Biochem. Cell Biol. 45 (8), 1927-1938 (2013)
Title Dysferlin regulates cell adhesion in human monocytes .
Author de Morree A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R and van der Maarel SM.
Journal J. Biol. Chem. 288 (20), 14147-14157 (2013)
Title Dysferlin is a plasma membrane protein and is expressed early in human development .
Author Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS and Bushby KM.
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 MR, Moreira Ede S, Zatz M, Beckmann JS 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 JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ and Brown RH 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 KM.
Journal Hum. Mol. Genet. 3 (3), 455-457 (1994)
Title Limb-Girdle Muscular Dystrophy Overview .
Author Pegoraro,E. and Hoffman,E.P.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dysferlinopathy .
Author Aoki,M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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