Sequence information
Variant position: 167 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:
TETNFITKINPETLETIKQV
D LCNYVSVNGATAHPHIENDG
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 TETNFITKINPETLETIKQVD LCNYVSVNGATAHPHIENDG
TETNFITKINPETLETIKQVD LCNYVSVNGATAHPHIENDG
Mouse TETNFITKINPETLETIKQVD LCNYISVNGATAHPHIESDG
Rat TETNFITKINPETLETIKQVD LCNYVSVNGATAHPHIESDG
Bovine TETNFITKVNPETLETIKQVD LCNYVSVNGATAHPHIENDG
Chicken TETNFITKINPDTLETIKQVD LCKYVSVNGATAHPHVENDG
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
Chain
2 – 533
Retinoid isomerohydrolase
Metal binding
180 – 180
Iron; catalytic
Mutagenesis
170 – 170
N -> K. Increased isomerohydrolase activity.
Mutagenesis
180 – 180
H -> A. Loss of enzymatic activity.
Literature citations
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Thompson D.A.; Gyuerues P.; Fleischer L.L.; Bingham E.L.; McHenry C.L.; Apfelstedt-Sylla E.; Zrenner E.; Lorenz B.; Richards J.E.; Jacobson S.G.; Sieving P.A.; Gal A.;
Invest. Ophthalmol. Vis. Sci. 41:4293-4299(2000)
Cited for: VARIANTS RP20 HIS-79; HIS-85; TRP-91; GLN-95; THR-132; TYR-167; THR-294; VAL-436 AND VAL-528;
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F.; Ziviello C.; Testa F.; Rossi S.; Fazzi E.; Bianchi P.E.; Fossarello M.; Signorini S.; Bertone C.; Galantuomo S.; Brancati F.; Valente E.M.; Ciccodicola A.; Rinaldi E.; Auricchio A.; Banfi S.;
Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007)
Cited for: VARIANTS LCA2 PRO-22; VAL-70; PRO-91; LYS-102; ASP-144; TYR-167 AND ARG-313;
Disclaimer:
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.