Variant position: 363 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LANLRENWEEVKKNARKAPQ PEVRRYVLPLNIDKADTGKNL
Mouse LANLRENWEEVKRNAMKAPQ PEVRRYVLPLTIDKVDTGRNL
Rat LANLRENWEEVKRNAMKAPQ PEVRRYVLPLTIDKADTGRNL
Bovine LANLRENWEEVKKNARKAPQ PEVRRYVLPLNIDKADTGKNL
Chicken LANLRANWDEVKKQAEKAPQ PEARRYVLPLRIDKADTGKNL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 533 Retinoid isomerohydrolase
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Gu S.M.; Thompson D.A.; Srikumari C.R.; Lorenz B.; Finckh U.; Nicoletti A.; Murthy K.R.; Rathmann M.; Kumaramanickavel G.; Denton M.J.; Gal A.;
Nat. Genet. 17:194-197(1997)
Cited for: VARIANT LCA2 THR-363;
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Perrault I.; Rozet J.-M.; Ghazi I.; Leowski C.; Bonnemaison M.; Gerber S.; Ducroq D.; Cabot A.; Souied E.; Dufier J.-L.; Munnich A.; Kaplan J.;
Am. J. Hum. Genet. 64:1225-1228(1999)
Cited for: VARIANTS LCA2 TYR-330; THR-363 AND VAL-434;
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S.; Perrault I.; Gerber S.; Tanguy G.; Barbet F.; Ducroq D.; Calvas P.; Dollfus H.; Hamel C.; Lopponen T.; Munier F.; Santos L.; Shalev S.; Zafeiriou D.; Dufier J.-L.; Munnich A.; Rozet J.-M.; Kaplan J.;
Hum. Mutat. 23:306-317(2004)
Cited for: VARIANTS LCA2 GLN-44; ASP-148; ASN-182; TYR-330; THR-363; VAL-434 AND ASP-473;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.