Results for the protein: Q9H9S5

Results for the Protein: Q9H9S5

46395992

79147

FKRP

NCBI, UniProt

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 ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_022855	Disease	p.ALA455ASP	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_018280	Polymorphism	p.ALA114GLY	N/A
Swiss-Prot	VAR_018287	Disease	p.ARG312CYS	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018292	Disease	p.ARG339HIS	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_018291	Disease	p.ARG339LEU	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018282	Disease	p.ARG143SER	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_065056	Disease	p.ARG134TRP	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_019272	Disease	p.ARG54TRP	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_065063	Disease	p.ASN463ASP	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_022853	Disease	p.ASP360ASN	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018293	Disease	p.ASP401ASN	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_022852	Disease	p.CYS318TYR	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5)
Swiss-Prot	VAR_018285	Disease	p.LEU276ILE	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018289	Disease	p.PRO316ARG	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_065062	Disease	p.PRO358LEU	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018294	Disease	p.PRO448LEU	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_022851	Disease	p.PRO316SER	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_022856	Disease	p.PRO462SER	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018283	Disease	p.PRO217THR	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_018288	Disease	p.PRO315THR	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_018284	Disease	p.SER221ARG	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_065059	Disease	p.THR293ILE	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_022850	Disease	p.TYR307ASN	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_065058	Disease	p.TYR182CYS	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_018286	Disease	p.TYR309CYS	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_018290	Disease	p.TYR328SER	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_018295	Disease	p.TYR465SER	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_065060	Disease	p.VAL300ALA	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_022854	Disease	p.VAL405LEU	Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
Swiss-Prot	VAR_065061	Disease	p.VAL300MET	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_065055	Disease	p.VAL79MET	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
Swiss-Prot	VAR_065057	Disease	p.VAL160PHE	Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
OMIM	606596.0009	Disease	p.ALA455ASP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0014	Disease	p.ARG134TRP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM	606596.0011	Disease	p.ARG54TRP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM	606596.0018	Disease	p.ASN463ASP	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0017	Disease	p.CYS318TYR	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 5
OMIM	606596.0004	Disease	p.LEU276ILE	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM	606596.0003	Disease	p.PRO448LEU	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0007	Disease	p.PRO316THR	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0008	Disease	p.SER221ARG	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0002	Disease	p.SER385TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0006	Disease	p.TER496ARG	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM	606596.0013	Disease	p.TRP255TER	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM	606596.0016	Disease	p.TYR307ASN	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE\|\|ANOMALIES), TYPE A, 5\|\|MUSCULAR DYSTROPHY-DYSTROGL
OMIM	606596.0001	Disease	p.TYR309CYS	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0015	Disease	p.VAL300ALA	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
OMIM	606596.0010	Disease	p.VAL405LEU	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),\|\|TYPE B, 5
OMIM	606596.0012	Disease	p.VAL79MET	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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