Variant position: 26 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 GGRRCQAQVSRRISFSASHR LYSKFLSDEENLKLFGKCNNP
Mouse DLRR-RARLSRLVSFSASHR LHSPSLSDEENLRVFGKCNNP
Rat GLRR-RARLSRLVSFSASHR LHSPSLSAEENLKVFGKCNNP
Caenorhabditis elegans MFRMPIVTMERVDSFSAAHR LHSEKLSDAENKETFGKCNNS
Drosophila MSQQPVAFLTRRETFSACHR LHSPQLSDAENLEVFGKCNNF
Slime mold MSR--TVILTRREVFSSSHR LYSDKLSLEENKKIYGKC--I
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
43 – 43 Proton acceptor
24 – 24 Zinc
19 – 19 Phosphoserine; by PKG
19 – 19 S -> A. Decrease in activity; abolishes phosphorylation by PKG.
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Dudesek A.; Roeschinger W.; Muntau A.C.; Seidel J.; Leupold D.; Thoeny B.; Blau N.;
Eur. J. Pediatr. 160:267-276(2001)
Cited for: VARIANTS HPABH4A PHE-26; MET-67; LEU-87; LEU-124; GLY-136 AND VAL-136;
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