Variant position: 692 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 790 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 MLIALMGETVENVSKESERI WRLQRARTILEFEKMLPEWLR
Mouse MLIALMGETVENVSKESERI WRLQRARTILEFEKMLPEWLR
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 – 790 Transient receptor potential cation channel subfamily V member 3
671 – 790 Cytoplasmic
669 – 705
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
Lin Z.; Chen Q.; Lee M.; Cao X.; Zhang J.; Ma D.; Chen L.; Hu X.; Wang H.; Wang X.; Zhang P.; Liu X.; Guan L.; Tang Y.; Yang H.; Tu P.; Bu D.; Zhu X.; Wang K.; Li R.; Yang Y.;
Am. J. Hum. Genet. 90:558-564(2012)
Cited for: VARIANTS OLMS SER-573; CYS-573 AND GLY-692; CHARACTERIZATION OF VARIANTS OLMS SER-573; CYS-573 AND GLY-692;
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