Variant position: 97 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 145 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 KKYMEEAIMQPLDHKNLDMD VPYFADVVSTTENVAVYIWDN
Mouse KEYMEEAIMKPLDHKNLDLD VPYFADAVSTTENVAVYIWES
Rat KEYMEEAIMKPLDHKNLDLD VPYFADVVSTTENVAVYIWEN
Caenorhabditis elegans KKEM-SLVLDTVDHRNLDKD VEFFKTTVSTSENVAIYMFEK
Drosophila KEAIETVIMKRLDHKNLDKD VEYFANTPSTTENLAVYIWDN
Slime mold KEILKEKVMDKLDHKNLEND VPELKGIVTTTENLSIFIWDQ
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 – 145 6-pyruvoyl tetrahydrobiopterin synthase
90 – 90 Charge relay system
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
Romstad A.; Guldberg P.; Blau N.; Guettler F.;
Clin. Chem. 45:2102-2108(1999)
Cited for: VARIANTS HPABH4A VAL-57 DEL AND MET-97;
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