Variant position: 203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 364 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 WTAPPIFGWSRYWPHGLKTS CGPDVFSGSSYPGVQSYMIVL
Mouse WTAPPIFGWSRYWPYGLKTS CGPDVFSGTSYPGVQSYMMVL
Rat WTAPPIFGWSRYWPYGLKTS CGPDVFSGTSYPGVQSYMMVL
Rabbit WTAPPIFGWSRYWPYGLKTS CGPDVFSGTSYPGVQSYMMVL
Chicken CAAPPLFGWSRYMPEGMQCS CGPDYYTHNPDYHNESYVLYM
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
1 – 364 Medium-wave-sensitive opsin 1
193 – 218 Extracellular
126 – 203
Defective colour vision associated with a missense mutation in the human green visual pigment gene.
Winderickx J.; Sanocki E.; Lindsey D.T.; Teller D.Y.; Motulsky A.G.; Deeb S.S.;
Nat. Genet. 1:251-256(1992)
Cited for: VARIANT CBD ARG-203; FUNCTION;
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Reyniers E.; Van Thienen M.N.; Meire F.; De Boulle K.; Devries K.; Kestelijn P.; Willems P.J.;
Cited for: VARIANT BCM ARG-203;
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