R107EfsX8_human-ABHD12

General

Gene Locus : human-ABHD12

Mode of mutation : Natural mutant

Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
Deletion Heterozygous Arg107Glufs*8 c.319delA Exon 3

References (1)

Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620
Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C
Ref : Ophthalmology , 121 :1620 , 2014
Abstract :
PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620
PubMedID: 24697911
Gene_locus related to this paper: human-ABHD12