Variant position: 16 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 218 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 MATRSPGVVISDDEP GYDLDLFCIPNHYAEDLERVF
Chimpanzee MATRSPGVVISDDEP GYDLDLFCIPNHYAEDLERVF
Mouse MPTRSPSVVISDDEP GYDLDLFCIPNHYAEDLEKVF
Rat MSTLSPSVVISDDEP GYDLDLFCIPNHYAEDLEKVF
Pig MATRSPSVVISDDEP GYDLDLFCIPNHYAEDLEKVF
Bovine MAARSPSVVISDDEP GYDLNLFCIPNHYAEDLEKVF
Chicken MATHSPCIVIGDDEQ GYDLDLFCIPKHYADDLEKVY
Slime mold ---MSREVIFTEKE- ---------------------
Baker's yeast MSANDKQYISYNNV- ---------------------
Fission yeast -MDPVRLYYSYNDI- ---------------------
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 – 1 Removed
2 – 218 Hypoxanthine-guanine phosphoribosyltransferase
2 – 2 N-acetylalanine
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
Gibbs R.A.; Nguyen P.N.; Edwards A.; Civitello A.B.; Caskey C.T.;
Cited for: VARIANTS LNS RJK LYS-45; LEU-74; ASP-130; SER-131; LYS-143; SER-161; TYR-177; ASN-194; VAL-199; ASP-204 AND TYR-206;
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