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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P32754: Variant p.Asn241Ser

4-hydroxyphenylpyruvate dioxygenase
Gene: HPD
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Variant information Variant position: help 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Asparagine (N) to Serine (S) at position 241 (N241S, p.Asn241Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HWKS; likely pathogenic; the orthologous rat mutation results in altered 4-hydroxyphenylpyruvate dioxygenase activity and accumulation of quinolacetic acid. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 393 The length of the canonical sequence.
Location on the sequence: help YSSLRSIVVANYEESIKMPI N EPAPGKKKSQIQEYVDYNGG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YSSLRSIVVANYEESIKMPINEPAPGKKK--SQIQEYVDYNGG

Mouse                         YSSLRSIVVTNYEESIKMPINEPAPGRKK--SQIQEYVDYN

Rat                           YSSLRSIVVANYEESIKMPINEPAPGRKK--SQIQEYVDYN

Pig                           YSALRSVVMANYEESIKMPINEPAPGKKK--SQIQEYVDYN

Bovine                        YSSLRSVVVANYEESIKMPINEPAPGKKK--SQIQEYVDYN

Xenopus tropicalis            YSSLRSIVVTNYEETIKMPINEPAAGKKK--SQIQEYVDYY

Zebrafish                     YSALRSIVVTNYEETIKMPINEPAMGKKK--SQIQEYIDYN

Caenorhabditis elegans        YSALRSIVVTNFEETIKMPINEPATSDKKAISQIQEYVDYY

Slime mold                    YSSLRSVVVADKSEKVKLPINEPANGIRK--SQIQEYVDFY
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 393 4-hydroxyphenylpyruvate dioxygenase
Domain 180 – 338 VOC 2
Modified residue 226 – 226 Phosphoserine
Modified residue 250 – 250 Phosphoserine
Mutagenesis 251 – 251 Q -> E. Abolishes 4-hydroxyphenylpyruvate dioxygenase activity.
Beta strand 237 – 244



Literature citations
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Item C.B.; Mihalek I.; Lichtarge O.; Jalan A.; Vodopiutz J.; Muhl A.; Bodamer O.A.;
Mol. Genet. Metab. 91:379-383(2007)
Cited for: VARIANT HWKS SER-241; INVOLVEMENT IN HWKS;
Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.
Brownlee J.M.; Heinz B.; Bates J.; Moran G.R.;
Biochemistry 49:7218-7226(2010)
Cited for: CHARACTERIZATION OF VARIANT HWKS SER-241;
Disclaimer: 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.