Variant position: 234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 317 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 SLRTSDLRKMVDMLQDSFPA RFKAIHFIHQPWYFTTTYNVV
Mouse GLRPSDLKKMVDMLQDSFPA RFKAIHFIHQPWYFTTTYNVV
Bovine GLRPSDLRKMVDMLQDSFPA RFKAIHFIYQPWYFTTTYNVV
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.
Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.
He X.; Lobsiger J.; Stocker A.;
Proc. Natl. Acad. Sci. U.S.A. 106:18545-18550(2009)
Cited for: X-RAY CRYSTALLOGRAPHY (1.69 ANGSTROMS) OF 2-317 OF WILD-TYPE AND MUTANT TRP-234 IN COMPLEX WITH 11-CIS-RETINAL; FUNCTION; TISSUE SPECIFICITY; RETINAL-BINDING SITES;
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Burstedt M.S.; Sandgren O.; Holmgren G.; Forsman-Semb K.;
Invest. Ophthalmol. Vis. Sci. 40:995-1000(1999)
Cited for: VARIANT BRD TRP-234;
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