Results for the protein: Q99814

Results for the Protein: Q99814

32470617

2034

EPAS1

NCBI, UniProt

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 ↕
PAS	cd00130	5.9e-05	95	200
PAS	cd00130	2.5e-17	241	347
HLH	smart00353	3.1e-10	20	75
PAS	smart00091	2.1e-10	86	152
PAS	smart00091	5e-09	232	298
PAS_3	pfam08447	1.4e-23	254	341
PAC	smart00086	6.7e-11	304	347
HIF-1	pfam11413	2.5e-18	516	550
HIF-1a_CTAD	pfam08778	5.1e-22	831	870

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35606117	Polymorphism	p.ASN636LYS	N/A
Swiss-Prot	VAR_067361	Disease	p.GLY537ARG	Erythrocytosis, familial, 4 (ECYT4)
Swiss-Prot	VAR_042443	Disease	p.GLY537TRP	Erythrocytosis, familial, 4 (ECYT4)
Swiss-Prot	VAR_067359	Disease	p.MET535THR	Erythrocytosis, familial, 4 (ECYT4)
Swiss-Prot	VAR_067360	Disease	p.MET535VAL	Erythrocytosis, familial, 4 (ECYT4)
Swiss-Prot	VAR_067362	Disease	p.PHE540LEU	Erythrocytosis, familial, 4 (ECYT4)
Swiss-Prot	VAR_067358	Disease	p.PRO534LEU	Erythrocytosis, familial, 4 (ECYT4)
dbSNP	rs61518065	Polymorphism	p.PRO785THR	N/A
dbSNP	rs59901247	Polymorphism	p.THR766PRO	N/A
OMIM	603349.0002	Disease	p.GLY537ARG	ERYTHROCYTOSIS, FAMILIAL, 4
OMIM	603349.0001	Disease	p.GLY537TRP	ERYTHROCYTOSIS, FAMILIAL, 4
OMIM	603349.0003	Disease	p.MET535VAL	ERYTHROCYTOSIS, FAMILIAL, 4

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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