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Results for the Protein: NP_001124459
195976779

dysferlin isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  MIYOSHI MYOPATHY
  MIYOSHI MYOPATHY, INCLUDED
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
  MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

C2B_RasA1_RasA4 - cd04025
C2 - smart00239
C2B_Synaptotagmin-7 - cd08405
C2_Smurf-like - cd08382
C2B_Synaptotagmin-li - cd04050
C2A_SLP - cd08521
C2B_RasGAP - cd08675
C2D_Tricalbin-like - cd04040
C2_PLC_like - cd00275
C2 - cd00030
C2B_Synaptotagmin - cd00276
C2 - pfam00168
C2A_Synaptotagmin-li - cd04024
C2A_Rabphilin_Doc2 - cd04035
C2B_RasA3 - cd04010
C2C_KIAA1228 - cd04030
C2C_Tricalbin-like - cd04045
C2_C21orf25-like - cd08678
C2A_Ferlin - cd08373
C2_E3_ubiquitin_liga - cd04021
C2A_MCTP_PRT_plant - cd04022
C2_putative_Elicitor - cd04049
C2B_Ferlin - cd04011
FerI - pfam08151
C2C_Ferlin - cd04018
C2A_fungal - cd04041
FerA - pfam08165
FerB - pfam08150
DysFN - smart00693
DysFC - smart00694
C2A_Synaptotagmin-8 - cd08387
C2_PKC_alpha_gamma - cd04026
C2A_RIM1alpha - cd04031
C2D_Ferlin - cd04017
C2C_MCTP_PRT - cd08377
C2A_MCTP_PRT - cd04042
C2A_C2C_Synaptotagmi - cd08391
C2_ArfGAP - cd04038
C2_KIAA0528-like - cd08688
C2_Calpain - cd04046
C2B_Munc13-like - cd04009
C2B_Synaptotagmin-1 - cd08402
C2B_MCTP_PRT - cd08376
C2E_Ferlin - cd04037
C2F_Ferlin - cd08374




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C2B_Synaptotagmin-licd040501e-061111
C2_Smurf-likecd083825e-061123
C2B_Synaptotagmin-7cd084056.5e-051121
C2cd000306.8e-222106
C2B_Synaptotagmincd002764.3e-05298
C2_PLC_likecd002750.000182125
C2A_Synaptotagmin-licd040245.6e-062124
C2A_Rabphilin_Doc2cd040358.8e-082106
C2D_Tricalbin-likecd040403e-052120
C2A_SLPcd085210.000182104
C2B_RasGAPcd086753.9e-072118
C2B_RasA3cd040100.000554123
C2C_KIAA1228cd040302.8e-064105
C2_E3_ubiquitin_ligacd040210.00015123
C2C_Tricalbin-likecd040454.5e-055115
C2A_Ferlincd083732.6e-655136
C2_C21orf25-likecd086780.000995131
C2A_MCTP_PRT_plantcd040223.2e-057126
C2_putative_Elicitorcd040490.0003712124
C2B_Ferlincd040116.3e-68249358
C2cd000304.7e-11254355
C2C_Ferlincd040181.5e-103412572
C2cd000301.1e-13413530
C2A_fungalcd040410.00037413529
C2A_Synaptotagmin-8cd083870.0005511561284
C2_PKC_alpha_gammacd040269.4e-0611571292
C2A_RIM1alphacd040313e-0511591279
C2D_Ferlincd040177.3e-8011701298
C2C_MCTP_PRTcd083770.0003811701295
C2B_RasA1_RasA4cd040252e-0911711297
C2A_MCTP_PRTcd040420.0003111711296
C2cd000303.9e-2411721278
C2A_Synaptotagmin-licd040244.3e-0711721294
C2_ArfGAPcd040387.9e-0611721323
C2A_C2C_Synaptotagmicd083915e-0711721294
C2B_RasGAPcd086752e-0711721292
C2_KIAA0528-likecd086881.3e-0511721279
C2_Calpaincd040460.0003111751301
C2B_Munc13-likecd040091.7e-0616121721
C2B_Synaptotagmin-1cd084020.0003816141736
C2E_Ferlincd040373.6e-8416181741
C2B_MCTP_PRTcd083764.8e-0516181727
C2cd000303.9e-1816191725
C2F_Ferlincd083747.4e-8518511983
C2cd000302.5e-1118521983
C2pfam001683.3e-23286
C2pfam001681.5e-12254334
C2pfam001681.5e-19413511
C2pfam001687.5e-2311721262
C2pfam001683.8e-2016191702
C2smart002391.7e-221101
C2smart002392.6e-16253349
FerIpfam081519.1e-45335406
C2smart002393.2e-19412526
FerApfam081653e-25712777
FerBpfam081507.3e-56804879
DysFNsmart006932.6e-22892951
DysFNsmart006931.5e-219641020
DysFCsmart006942.8e-1510291067
DysFCsmart006942.4e-1210861119
C2smart002391.4e-2311711276
C2smart002393.1e-2016181717
C2smart002395e-2318511980

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34660230 Polymorphismp.ALA1090PRON/A
dbSNPrs115279465 Polymorphismp.ALA382VALN/A
dbSNPrs34211915 Polymorphismp.ARG1040GLNN/A
dbSNPrs61738567 Polymorphismp.ASP1477GLYN/A
dbSNPrs34671418 Polymorphismp.ILE852VALN/A
dbSNPrs13407355 Polymorphismp.LEU221VALN/A
OMIM603009.0004 Diseasep.ARG2042CYSMIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
OMIM603009.0011 Diseasep.ARG1046HISMIYOSHI MYOPATHY
OMIM603009.0012 Diseasep.ARG1905TERMIYOSHI MYOPATHY||MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED;;||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, IN
OMIM603009.0013 Diseasep.ASP625TYRMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM603009.0001 Diseasep.GLN605TERMIYOSHI MYOPATHY
OMIM603009.0014 Diseasep.GLU1734GLYMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM603009.0017 Diseasep.GLY299ARGMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
OMIM603009.0015 Diseasep.GLY519ARGMIYOSHI MYOPATHY
OMIM603009.0018 Diseasep.GLY299TRPMIYOSHI MYOPATHY
OMIM603009.0003 Diseasep.ILE1298VALMIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
OMIM603009.0007 Diseasep.PRO791ARGMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY, INCLUDED
OMIM603009.0010 Diseasep.TRP999CYSMIYOSHI MYOPATHY
OMIM603009.0009 Diseasep.VAL67ASPMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B



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