Variant position: 150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 348 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 VLAIERYVVVCKPMSNFRFG ENHAIMGVAFTWVMALACAAP
Mouse VLAIERYVVVCKPMSNFRFG ENHAIMGVVFTWIMALACAAP
Rat VLAIERYVVVCKPMSNFRFG ENHAIMGVAFTWVMALACAAP
Pig VLAIERYVVVCKPMSNFRFG ENHAIMGLALTWVMALACAAP
Bovine VLAIERYVVVCKPMSNFRFG ENHAIMGVAFTWVMALACAAP
Rabbit VLAIERYVVVCKPMSNFRFG ENHAIMGVAFTWIMALACAAP
Sheep VLAIERYVVVCKPMSNFRFG ENHAIMGVAFTWVMALACAAP
Cat VLAIERYVVVCKPMSNFRFG ENHAIMGVAFTWVMALACAAP
Chicken VLAVERYVVVCKPMSNFRFG ENHAIMGVAFSWIMAMACAAP
Xenopus laevis VLAVERYIVVCKPMANFRFG ENHAIMGVAFTWIMALSCAAP
Zebrafish VLAIERWMVVCKPVSNFRFG ENHAIMGVAFTWVMACSCAVP
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.
Missense rhodopsin mutation in a family with recessive RP.
Kumaramanickavel G.; Maw M.; Denton M.J.; John S.; Srikumari C.R.; Orth U.; Oehlmann R.; Gal A.;
Nat. Genet. 8:10-11(1994)
Cited for: VARIANT ARRP LYS-150;
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M.; Khan M.I.; Gal A.; Hussain A.; Shah S.T.; Khan M.S.; Sadeque A.; Bokhari H.; Collin R.W.; Orth U.; van Genderen M.M.; den Hollander A.I.; Cremers F.P.; Qamar R.;
Mol. Vis. 15:2526-2534(2009)
Cited for: VARIANT RP4 LYS-150;
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.