Variant position: 371 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 426 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 AQFADIEPKFDRLLFFWSDR RNPHEVQPAYATRYAITVWYF
Mouse AQFADIEPKFDRLLFFWSDR RNPHEVQPAYATRYAITVWYF
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 – 426 Egl nine homolog 1
291 – 392 Fe2OG dioxygenase
374 – 374 Iron
383 – 383 2-oxoglutarate
383 – 383 R -> A. Reduces enzyme activity by 95%.
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
Percy M.J.; Furlow P.W.; Beer P.A.; Lappin T.R.J.; McMullin M.F.; Lee F.S.;
Cited for: VARIANT ECYT3 HIS-371; CHARACTERIZATION OF VARIANT EXCYT3 HIS-371;
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