Variant position: 537 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 870 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 TQTDFNELDLETLAPYIPMD GEDFQLSPICPEERLLAENPQ
Mouse TQTDFSELDLETLAPYIPMD GEDFQLSPICPEEPLMPESPQ
Rat TQTDFNELDLETLAPYIPMD GEDFQLSPICPEEPLVPESPQ
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
1 – 870 Endothelial PAS domain-containing protein 1
496 – 542 NTAD
531 – 531 4-hydroxyproline
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
Furlow P.W.; Percy M.J.; Sutherland S.; Bierl C.; McMullin M.F.; Master S.R.; Lappin T.R.; Lee F.S.;
J. Biol. Chem. 284:9050-9058(2009)
Cited for: INTERACTION WITH EGLN1 AND VHL; VARIANT ECYT4 LEU-534; CHARACTERIZATION OF VARIANTS ECYT4 LEU-534; VAL-535 AND ARG-537;
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
Percy M.J.; Beer P.A.; Campbell G.; Dekker A.W.; Green A.R.; Oscier D.; Rainey M.G.; van Wijk R.; Wood M.; Lappin T.R.; McMullin M.F.; Lee F.S.;
Cited for: VARIANTS ECYT4 VAL-535 AND ARG-537;
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