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Results for the Protein: Q9GZT9
32129514

EGLN1_HUMAN RecName: Full=Egl nine homolog 1; AltName: Full=Hypoxia-inducible factor prolyl hydroxylase 2; Short=HIF-PH2; Short=HIF-prolyl hydroxylase 2; Short=HPH-2; AltName: Full=Prolyl hydroxylase domain-containing protein 2; Short=PHD2; AltName: Full=SM-20

Known Diseases associated with this Protein:
  ERYTHROCYTOSIS, FAMILIAL, 3
  ERYTHROCYTOSIS, FAMILIAL, 3 (ECYT3)
5
0
3
0
2
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Default View:

zf-MYND - pfam01753
EGL-9 - COG3751
P4Hc - smart00702
2OG-FeII_Oxy - pfam03171


Swiss-Prot Protein: Q9GZT9
Identical to: NP_071334
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-MYNDpfam017532.1e-142158
EGL-9COG37510.00058167408
2OG-FeII_Oxypfam031711.2e-12294392
P4Hcsmart007022e-47205391

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_045902Diseasep.ARG371HISErythrocytosis, familial, 3 (ECYT3)
Swiss-ProtVAR_027371Diseasep.PRO317ARGErythrocytosis, familial, 3 (ECYT3)
OMIM606425.0002 Diseasep.ARG371HISERYTHROCYTOSIS, FAMILIAL, 3
OMIM606425.0003 Diseasep.HIS374ARGERYTHROCYTOSIS, FAMILIAL, 3
OMIM606425.0001 Diseasep.PRO317ARGERYTHROCYTOSIS, FAMILIAL, 3



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