Variant position: 190 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 FGWSRFIPEGLQCSCGPDWY TVGTKYRSESYTWFLFIFCFI
Chimpanzee FGWSRFIPEGLQCSCGPDWY TVGTKYRSESYTWFLFIFCFI
Mouse FGWSRFIPEGLQCSCGPDWY TVGTKYRSEYYTWFLFIFCFI
Rat FGWSRFIPEGLQCSCGPDWY TVGTKYRSEHYTWFLFIFCFI
Bovine FGWSRFVPEGLQCSCGPDWY TVGTKYYSEYYTWFLFIFCYI
Chicken FGWSRYIPEGLQCSCGPDWY TTDNKWHNESYVLFLFTFCFG
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 – 348 Short-wave-sensitive opsin 1
174 – 199 Extracellular
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.
Baraas R.C.; Hagen L.A.; Dees E.W.; Neitz M.;
Vision Res. 73:1-9(2012)
Cited for: VARIANT CBT ILE-190;
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