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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09917: Variant p.Ala549Val

Polyunsaturated fatty acid 5-lipoxygenase
Gene: ALOX5
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Variant information Variant position: help 549 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Alanine (A) to Valine (V) at position 549 (A549V, p.Ala549Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Decreases arachidonate 5-lipoxygenase activity. Any additional useful information about the variant.


Sequence information Variant position: help 549 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 674 The length of the canonical sequence.
Location on the sequence: help SVKSREQLSEYLTVVIFTAS A QHAAVNFGQYDWCSWIPNAP 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                         SVKSREQLSEYLTVVIFTASAQHAAVNFGQYDWCSWIPNAP

Mouse                         SIKSREKLSEYLTVVIFTASAQHAAVNFGQYDWCSWIPNAP

Rat                           SIKSREKLSEYLTVVIFTASAQHAAVNFGQYDWCSWIPNAP

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 1 – 674 Polyunsaturated fatty acid 5-lipoxygenase
Domain 119 – 674 Lipoxygenase
Binding site 551 – 551
Binding site 555 – 555
Alternative sequence 485 – 674 Missing. In isoform 5.
Alternative sequence 534 – 674 Missing. In isoform 4.
Mutagenesis 551 – 551 H -> NA. No activity.
Helix 549 – 555



Literature citations
Functional characterization of genetic enzyme variations in human lipoxygenases.
Horn T.; Reddy Kakularam K.; Anton M.; Richter C.; Reddanna P.; Kuhn H.;
Redox Biol. 1:566-577(2013)
Cited for: CATALYTIC ACTIVITY; FUNCTION; VARIANTS LYS-254; SER-337; SER-447; VAL-549; LEU-577; MET-591 AND GLN-656; CHARACTERIZATION OF VARIANTS LYS-254; SER-337; SER-447; VAL-549; LEU-577; MET-591 AND GLN-656;
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.