Variant position: 318 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 KYLNNKYRTSPFNLFHHINT YEDNGFLIVDLCCWKGFEFVY
Mouse KYFNNKYRTSPFNLFHHINT YEDNGFLIVDLCCWKGFEFVY
Rat KYFNNKYRTSPFNLFHHINT YEDNGFLIVDLCCWKGFEFVY
Bovine KYINNKYRTSPFNLFHHINT YEDHEFLIVDLCCWKGFEFVY
Chicken RLLNIKYRTSAFNLFHHINT FEDNGFLIVDLCTWKGFEFVY
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
313 – 313 Iron; catalytic
329 – 329 S-palmitoyl cysteine; in membrane form
330 – 330 S-palmitoyl cysteine; in membrane form
313 – 313 H -> A. Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability.
330 – 330 C -> T. Does not affect isomerohydrolase activity.
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Am. J. Ophthalmol. 144:791-811(2007)
Cited for: VARIANTS LCA2 ILE-101; SER-118; PRO-162; ASN-318; 402-TRP--SER-533 DEL; PRO-408; ALA-443; 460-TRP--SER-533 DEL AND THR-533;
Predicting the pathogenicity of RPE65 mutations.
Philp A.R.; Jin M.; Li S.; Schindler E.I.; Iannaccone A.; Lam B.L.; Weleber R.G.; Fishman G.A.; Jacobson S.G.; Mullins R.F.; Travis G.H.; Stone E.M.;
Hum. Mutat. 30:1183-1188(2009)
Cited for: CHARACTERIZATION OF VARIANTS LCA2 SER-40; GLN-44; GLN-91; TRP-91; ILE-101; ASP-239; ASN-318; PRO-408 AND VAL-434; CHARACTERIZATION OF VARIANT LYS-321; CHARACTERIZATION OF VARIANT RP20 THR-294;
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.