Variant position: 182 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 TIKQVDLCNYVSVNGATAHP HIENDGTVYNIGNCFGKNFSI
Mouse TIKQVDLCNYISVNGATAHP HIESDGTVYNIGNCFGKNFTV
Rat TIKQVDLCNYVSVNGATAHP HIESDGTVYNIGNCFGKNFTV
Bovine TIKQVDLCNYVSVNGATAHP HIENDGTVYNIGNCFGKNFSI
Chicken TIKQVDLCKYVSVNGATAHP HVENDGTVYNIGNCFGKNFSL
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
180 – 180 Iron; catalytic
170 – 170 N -> K. Increased isomerohydrolase activity.
180 – 180 H -> A. Loss of enzymatic activity.
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Simovich M.J.; Miller B.; Ezzeldin H.; Kirkland B.T.; McLeod G.; Fulmer C.; Nathans J.; Jacobson S.G.; Pittler S.J.;
Hum. Mutat. 18:164-164(2001)
Cited for: VARIANTS LCA2 SER-40; GLN-44; GLN-91; ASP-144; TYR-182 AND GLN-417; VARIANT LYS-321;
Evaluation of genotype-phenotype associations in Leber congenital amaurosis.
Galvin J.A.; Fishman G.A.; Stone E.M.; Koenekoop R.K.;
Cited for: VARIANTS LCA2 SER-40; TRP-91; TYR-182; ASP-239; GLU-393 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.