Variant position: 95 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 GHVTYHRRFIRTDAYVRAMT EKRIVITEFGTCAFPDPCKNI
Mouse GHVTYHRRFIRTDAYVRAMT EKRIVITEFGTCAFPDPCKNI
Rat GHVTYYRRFIRTDAYVRAMT EKRIVITEFGTCAFPDPCKNI
Bovine GHVTYHRRFIRTDAYVRAMT EKRIVITEFGTCAFPDPCKNI
Chicken GHVTYHRRFVRTDAYVRAMT EKRIVITEFGTYAYPDPCKNI
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
101 – 101 Phosphothreonine
105 – 105 Phosphothreonine
113 – 113 N6-acetyllysine
112 – 112 S-palmitoyl cysteine; in membrane form
106 – 106 C -> A. No loss of enzymatic activity. No effect on palmitoylation. No loss of membrane association.
106 – 106 C -> Y. Does not affect isomerohydrolase activity.
112 – 112 C -> A. Loss of enzymatic activity. No palmitoylation. Loss of membrane association.
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;
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.