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Last update

21/6/2017

Gene: fukutin related protein; FKRP

Gene Symbol: FKRP
OMIM: 606596
Chromosome location: 19q13.32

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 || c.1364C>A

Phenotype:	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Dna Change:	c.1364C>A
Protein Change:	p.Ala455Asp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 4
Transcript:	NM_024301.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	Southern	6 patients/6 unrelated families	NA	Louhichi N et al., 2004Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F, . New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.. Neurogenetics. 2004; 5(1):27-34

References

Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F, New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.Neurogenetics. 2004; 5(1):27-34

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: fukutin related protein; FKRP

References