current
RPE65:c.1543C>T (p.Arg515Trp) AND Retinitis pigmentosa 20
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a 55-year-old Japanese woman, the child of consanguineous parents, who had been diagnosed with retinitis pigmentosa (RP20; 613794) at the age of 40, Kondo et al. (2004) detected a homozygous 1543C-T transition in the RPE65 gene that resulted in an arg515-to-trp (R515W) amino acid substitution. She had observed the development of night blindness in early childhood and had been free from visual disability until 24 years of age. Arg515 is located in a conserved RPE65-specific region. Kondo et al. (2004) noted that this mutation had been found in compound heterozygosity in Leber congenital amaurosis (LCA2; 204100).
15557452
RPE65:c.1543C>T (p.Arg515Trp)
NM_000329.2:c.1543C>T
NG_008472.1:g.25125C>T
NC_000001.10:g.68895518G>A
NP_000320.1:p.Arg515Trp
missense
R515W
ARG515TRP
1p31.3
retinal pigment epithelium-specific protein 65kDa
RPE65
Retinitis pigmentosa 20
RP 20
RP20
Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.
Variable
1-5 / 10 000
20301590
current
pathogenic
germline
human
not provided
curation
In a 55-year-old Japanese woman, the child of consanguineous parents, who had been diagnosed with retinitis pigmentosa (RP20; 613794) at the age of 40, Kondo et al. (2004) detected a homozygous 1543C-T transition in the RPE65 gene that resulted in an arg515-to-trp (R515W) amino acid substitution. She had observed the development of night blindness in early childhood and had been free from visual disability until 24 years of age. Arg515 is located in a conserved RPE65-specific region. Kondo et al. (2004) noted that this mutation had been found in compound heterozygosity in Leber congenital amaurosis (LCA2; 204100).
15557452
RPE65, ARG515TRP
ARG515TRP
RPE65
RETINITIS PIGMENTOSA 20