Variant position: 216 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 PEVNNESFVIYMFVVHFTIP MIIIFFCYGQLVFTVKEAAAQ
Mouse PEVNNESFVIYMFVVHFTIP MIVIFFCYGQLVFTVKEAAAQ
Rat PEVNNESFVIYMFVVHFTIP MIVIFFCYGQLVFTVKEAAAQ
Pig PEVNNESFVIYMFVVHFSIP LVIIFFCYGQLVFTVKEAAAQ
Bovine EETNNESFVIYMFVVHFIIP LIVIFFCYGQLVFTVKEAAAQ
Rabbit PEVNNESFVIYMFVVHFTIP LIIIFFCYGQLVFTVKEAAAQ
Sheep PEINNESFVIYMFVVHFSIP LIVIFFCYGQLVFTVKEAAAQ
Cat PEVNNESFVIYMFVVHFTIP MIVIFFCYGQLVFTVKEAAAQ
Chicken PEINNESFVIYMFVVHFMIP LAVIFFCYGNLVCTVKEAAAQ
Xenopus laevis PEVNNESFVIYMFIVHFTIP LIVIFFCYGRLLCTVKEAAAQ
Zebrafish PGVNNESFVIYMFIVHFFIP LIVIFFCYGRLVCTVKEAAAQ
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.
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
Al-Maghtheh M.; Inglehearn C.; Lunt P.; Jay M.; Bird A.; Bhattacharya S.;
Hum. Mutat. 3:409-410(1994)
Cited for: VARIANTS RP4 ARG-40 AND LYS-216;
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