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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16665: Variant p.Pro582Ser

Hypoxia-inducible factor 1-alpha
Gene: HIF1A
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Variant information Variant position: help 582 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Proline (P) to Serine (S) at position 582 (P582S, p.Pro582Ser). 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 hydrophobic (P) 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 582 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 826 The length of the canonical sequence.
Location on the sequence: help LAPYIPMDDDFQLRSFDQLS P LESSSASPESASPQSTVTVF 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                         LAPYIPMDDDFQLRSFDQLSPLESSSASPESASPQSTVTVF

Mouse                         LAPYIPMDDDFQLRSFDQLSPLESNSPSPPSM---STVTGF

Rat                           LAPYIPMDDDFQLRSFDQLSPLESNSPSPPSV---STVTGF

Bovine                        LAPYIPMDDDFQLRSFDQLSPLENSSTSPQSA---STNTVF

Chicken                       LAPYIPMDDDFQLRSFDQLSPLESSSSGSQNA---ATITIL

Xenopus laevis                LAPYIPMDDDFQLRTFDQLSSLECDSSIPQTLG--SMTTLF

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 – 826 Hypoxia-inducible factor 1-alpha
Region 401 – 603 ODD
Region 576 – 785 ID
Modified residue 564 – 564 4-hydroxyproline
Modified residue 576 – 576 Phosphoserine; by PLK3
Modified residue 589 – 589 Phosphoserine; by GSK3-beta
Mutagenesis 564 – 564 P -> A. Increases HIF1A instability and reduces HIF1A-induced target gene transcriptional activation; when associated with A-402.
Mutagenesis 564 – 564 P -> G. No change in VHL-dependent ubiquitination. Partially reduced VHLE target site ubiquitination. No VHLE target site ubiquitination; when associated with A-402.
Mutagenesis 576 – 576 S -> A. Induces stabilization of the protein.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.