Variant position: 136 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 DNLQKVLP-VGVLYKVKVYET DNNIVVYKGE---------------------------
Mouse ESLQKLLP-VGALYKVKVFET DNNIVVYKG
Rat ENLQRLLP-VGALYKVKVYET DNNIVVYKG
Caenorhabditis elegans EKLKSVMSNPSVLYKVTIEET PKNIFTYKG
Drosophila DNIRLQLKKPELLYEVKIHET PKNIISYRG
Slime mold DQLFPSLK--DFLYEVKILET ENNFVVYRG
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
134 – 134 Charge relay system
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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