Variant position: 340 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 LKILVDYDEKGYLLQIFTKP VQDRPTLFLEVIQRHNHQGFG
Mouse LHILVDYDEKGYLLQIFTKP MQDRPTLFLEVIQRHNHQGFG
Rat LKILVDYDEKGYLLQIFTKP MQDRPTLFLEVIQRHNHQGFG
Pig LKILVDYDEKGYLLQIFTKP MQDRPTVFLEVIQRNNHQGFG
Bovine LKILVDYDEKGYLLQIFTKP MQDRPTLFLEVIQRHNHQGFG
Xenopus tropicalis LKILVDYDDKGYLLQIFTKP MQDRPTLFLEVIQRYNHFGFG
Zebrafish LKILVDFDDKGYLLQIFTKP VQDRPTLFLEVIQRNNHFGFG
Caenorhabditis elegans LHILVDFDENGYLLQIFSKP CQDRPTLFLEIIQRQNHEGFG
Slime mold LHILIDYDDKGYLLQIFTNN VEDKPTVFFEIIQRNNHDGFG
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
349 – 349 Iron
340 – 344
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;
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.