Variant position: 16 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 MSTEGGGRRCQAQVS RRISFSASHRLYSKFLSDEEN
Mouse MSAAGDLRR-RARLS RLVSFSASHRLHSPSLSDEEN
Rat MNAAVGLRR-RARLS RLVSFSASHRLHSPSLSAEEN
Caenorhabditis elegans -----MFRMPIVTME RVDSFSAAHRLHSEKLSDAEN
Drosophila -----MSQQPVAFLT RRETFSACHRLHSPQLSDAEN
Slime mold -----MSR--TVILT RREVFSSSHRLYSDKLSLEEN
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
24 – 24
19 – 19 Phosphoserine; by PKG
28 – 28 Phosphoserine
19 – 19 S -> A. Decrease in activity; abolishes phosphorylation by PKG.
11 – 24
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
Scherer-Oppliger T.; Leimbacher W.; Blau N.; Thoeny B.;
J. Biol. Chem. 274:31341-31348(1999)
Cited for: CHARACTERIZATION OF VARIANTS HPABH4A CYS-16 AND GLN-25; KINETIC PARAMETERS; PHOSPHORYLATION AT SER-19; MUTAGENESIS OF SER-19;
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
Thoeny B.; Leimbacher W.; Blau N.; Harvie A.; Heizmann C.W.;
Am. J. Hum. Genet. 54:782-792(1994)
Cited for: VARIANTS HPABH4A CYS-16 AND GLN-25;
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
Oppliger T.; Thoeny B.; Nar H.; Buergisser D.; Huber R.; Heizmann C.W.; Blau N.;
J. Biol. Chem. 270:29498-29506(1995)
Cited for: CHARACTERIZATION OF VARIANTS HPABH4A CYS-16; GLN-25; VAL-57 DEL AND LEU-87;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.