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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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Last update

21/6/2017

Phenotype: Retinitis pigmentosa 11

OMIM: 600138
Inheritance: Autosomal dominant
Classification: Diseases of the eye and adnexa

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

PRPF31 || c.541G>T

Gene/Locus:	PRPF31
Dna Change:	c.541G>T
Protein Change:	p.Glu181X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 7
Transcript:	NM_015629.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Northwestern (Asturias)	3 families/ 4 families	NA	Pomares E et al., 2010Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R, . Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.. Eur. J. Hum. Genet.. 2010; 18(1):118-24

References

Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R, Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.Eur. J. Hum. Genet.. 2010; 18(1):118-24

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Retinitis pigmentosa 11

References