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Results for the Protein: Q99814
32470617

EPAS1_HUMAN RecName: Full=Endothelial PAS domain-containing protein 1; Short=EPAS-1; AltName: Full=Basic-helix-loop-helix-PAS protein MOP2; AltName: Full=Class E basic helix-loop-helix protein 73; Short=bHLHe73; AltName: Full=HIF-1-alpha-like factor; Short=HLF; AltName: Full=Hypoxia-inducible factor 2-alpha; Short=HIF-2-alpha; Short=HIF2-alpha; AltName: Full=Member of PAS protein 2; AltName: Full=PAS domain-containing protein 2

Known Diseases associated with this Protein:
  ERYTHROCYTOSIS, FAMILIAL, 4
  ERYTHROCYTOSIS, FAMILIAL, 4 (ECYT4)
9
3
3
3
6
Tips:
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Default View:

HLH - cd00083
HLH - smart00353
PAS - smart00091
PAS - cd00130
PAS_3 - pfam08447
PAC - smart00086
HIF-1 - pfam11413
HIF-1a_CTAD - pfam08778


Swiss-Prot Protein: Q99814
Identical to: NP_001421
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HLHcd000838.1e-111272
PAScd001305.9e-0595200
PAScd001302.5e-17241347
HLHsmart003533.1e-102075
PASsmart000912.1e-1086152
PASsmart000915e-09232298
PAS_3pfam084471.4e-23254341
PACsmart000866.7e-11304347
HIF-1pfam114132.5e-18516550
HIF-1a_CTADpfam087785.1e-22831870

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35606117 Polymorphismp.ASN636LYSN/A
Swiss-ProtVAR_067361Diseasep.GLY537ARGErythrocytosis, familial, 4 (ECYT4)
Swiss-ProtVAR_042443Diseasep.GLY537TRPErythrocytosis, familial, 4 (ECYT4)
Swiss-ProtVAR_067359Diseasep.MET535THRErythrocytosis, familial, 4 (ECYT4)
Swiss-ProtVAR_067360Diseasep.MET535VALErythrocytosis, familial, 4 (ECYT4)
Swiss-ProtVAR_067362Diseasep.PHE540LEUErythrocytosis, familial, 4 (ECYT4)
Swiss-ProtVAR_067358Diseasep.PRO534LEUErythrocytosis, familial, 4 (ECYT4)
dbSNPrs61518065 Polymorphismp.PRO785THRN/A
dbSNPrs59901247 Polymorphismp.THR766PRON/A
OMIM603349.0002 Diseasep.GLY537ARGERYTHROCYTOSIS, FAMILIAL, 4
OMIM603349.0001 Diseasep.GLY537TRPERYTHROCYTOSIS, FAMILIAL, 4
OMIM603349.0003 Diseasep.MET535VALERYTHROCYTOSIS, FAMILIAL, 4



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