Variant position: 239 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 PISKSEIVVQFPCSDRFKPS YVHSFGLTPNYIVFVETPVKI
Mouse PINKSEVVVQFPCSDRFKPS YVHSFGLTPNYIVFVETPVKI
Rat PINKSEVVVQFPCSDRFKPS YVHSFGLTPNYIVFVETPVKI
Bovine PISKSEIVVQFPCSDRFKPS YVHSFGLTPNYIVFVETPVKI
Chicken PMNKSEVVVQFPCSDRFKPS YVHSFGLTPNYIVFVETPVKI
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
241 – 241 Iron; catalytic
231 – 231 S-palmitoyl cysteine; in membrane form
241 – 241 H -> A. Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability.
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;
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;
Next-generation genetic testing for retinitis pigmentosa.
Neveling K.; Collin R.W.; Gilissen C.; van Huet R.A.; Visser L.; Kwint M.P.; Gijsen S.J.; Zonneveld M.N.; Wieskamp N.; de Ligt J.; Siemiatkowska A.M.; Hoefsloot L.H.; Buckley M.F.; Kellner U.; Branham K.E.; den Hollander A.I.; Hoischen A.; Hoyng C.; Klevering B.J.; van den Born L.I.; Veltman J.A.; Cremers F.P.; Scheffer H.;
Hum. Mutat. 33:963-972(2012)
Cited for: VARIANTS RP20 VAL-70; TRP-91; ASP-239 AND HIS-368;
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.