Variant position: 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 393 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 RGRFLHFHSVTFWVGNAKQA ASFYCSKMGFEPLAYRGLETG
Mouse RGRFLHFHSVTFWVGNAKQA ASFYCNKMGFEPLAYRGLETG
Rat RGRFLHFHSVTFWVGNAKQA ASFYCNKMGFEPLAYKGLETG
Pig RGRFLHFHSVTFWVGNAKQA ASYYCSKIGFEPLAYKGLETG
Bovine RGRFLHFHSVTFWVGNAKQA ASYYCSKLGFEPLAYKGLETG
Xenopus tropicalis RGRFLSFHHLTFWVGNAKQA ASFYCDKFGFEPCAYKGLETG
Zebrafish RGKFLNFHHIKFWVGNAKQA AVFYCDKFGFEPLAYKGLETG
Caenorhabditis elegans IGTFVAFDHVRFVVGNAKQA AYWYCANFGFEPFAYKGLETG
Slime mold ------FDHVTFWVGNALQA ATYYIARFGFQNLAYSGLETG
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
2 – 393 4-hydroxyphenylpyruvate dioxygenase
18 – 149 VOC 1
1 – 39 Missing. In isoform 2.
29 – 40
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
Rueetschi U.; Cerone R.; Perez-Cerda C.; Schiaffino M.C.; Standing S.; Ugarte M.; Holme E.;
Hum. Genet. 106:654-662(2000)
Cited for: VARIANTS TYRSN3 CYS-160 AND MET-335; VARIANTS THR-33; PHE-267 AND LEU-340;
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
Tomoeda K.; Awata H.; Matsuura T.; Matsuda I.; Ploechl E.; Milovac T.; Boneh A.; Scott C.R.; Danks D.M.; Endo F.;
Mol. Genet. Metab. 71:506-510(2000)
Cited for: VARIANT TYRSN3 VAL-268; VARIANT HAWK THR-33;
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.