Variant position: 116 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 DVPYFADVVSTTENVAVYIW DNLQKVLP-VGVLYKVKVYETD
Mouse DVPYFADAVSTTENVAVYIW ESLQKLLP-VGALYKVKVFET
Rat DVPYFADVVSTTENVAVYIW ENLQRLLP-VGALYKVKVYET
Caenorhabditis elegans DVEFFKTTVSTSENVAIYMF EKLKSVMSNPSVLYKVTIEET
Drosophila DVEYFANTPSTTENLAVYIW DNIRLQLKKPELLYEVKIHET
Slime mold DVPELKGIVTTTENLSIFIW DQLFPSLK--DFLYEVKILET
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
107 – 119
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
Scherer-Oppliger T.; Matasovic A.; Laufs S.; Levy H.L.; Quackenbush E.J.; Blau N.; Thoeny B.;
Hum. Mutat. 13:286-289(1999)
Cited for: VARIANTS HPABH4A ASP-47 AND GLY-116;
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