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Results for the Protein: Q9H9S5
46395992

FKRP_HUMAN RecName: Full=Fukutin-related protein

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 5
  MUSCULAR DYSTROPHY-DYSTROGL
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A5 (MDDGA5)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION B5 (MDDGB5)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C5 (MDDGC5)
  TYPE B, 5
48
1
17
0
32
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Default View:

LicD - pfam04991


Swiss-Prot Protein: Q9H9S5
Identical to: NP_077277, NP_001034974
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LicDpfam049915.9e-11333474

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022855Diseasep.ALA455ASPMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_018280Polymorphismp.ALA114GLYN/A
Swiss-ProtVAR_018287Diseasep.ARG312CYSMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018292Diseasep.ARG339HISMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_018291Diseasep.ARG339LEUMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018282Diseasep.ARG143SERMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_065056Diseasep.ARG134TRPMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_019272Diseasep.ARG54TRPMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_065063Diseasep.ASN463ASPMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_022853Diseasep.ASP360ASNMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018293Diseasep.ASP401ASNMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_022852Diseasep.CYS318TYRMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5)
Swiss-ProtVAR_018285Diseasep.LEU276ILEMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018289Diseasep.PRO316ARGMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_065062Diseasep.PRO358LEUMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018294Diseasep.PRO448LEUMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_022851Diseasep.PRO316SERMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_022856Diseasep.PRO462SERMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018283Diseasep.PRO217THRMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_018288Diseasep.PRO315THRMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_018284Diseasep.SER221ARGMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_065059Diseasep.THR293ILEMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_022850Diseasep.TYR307ASNMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_065058Diseasep.TYR182CYSMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_018286Diseasep.TYR309CYSMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_018290Diseasep.TYR328SERMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_018295Diseasep.TYR465SERMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_065060Diseasep.VAL300ALAMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_022854Diseasep.VAL405LEUMuscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-ProtVAR_065061Diseasep.VAL300METMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_065055Diseasep.VAL79METMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-ProtVAR_065057Diseasep.VAL160PHEMuscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
OMIM606596.0009 Diseasep.ALA455ASPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0014 Diseasep.ARG134TRPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM606596.0011 Diseasep.ARG54TRPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM606596.0018 Diseasep.ASN463ASPMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0017 Diseasep.CYS318TYRMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 5
OMIM606596.0004 Diseasep.LEU276ILEMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM606596.0003 Diseasep.PRO448LEUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0007 Diseasep.PRO316THRMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0008 Diseasep.SER221ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0002 Diseasep.SER385TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0006 Diseasep.TER496ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM606596.0013 Diseasep.TRP255TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM606596.0016 Diseasep.TYR307ASNMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 5||MUSCULAR DYSTROPHY-DYSTROGL
OMIM606596.0001 Diseasep.TYR309CYSMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0015 Diseasep.VAL300ALAMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM606596.0010 Diseasep.VAL405LEUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 5
OMIM606596.0012 Diseasep.VAL79METMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5



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