Results for the protein: P15976

Results for the Protein: P15976

120956

2623

GATA1

NCBI, UniProt

GATA1_HUMAN RecName: Full=Erythroid transcription factor; AltName: Full=Eryf1; AltName: Full=GATA-binding factor 1; Short=GATA-1; Short=GF-1; AltName: Full=NF-E1 DNA-binding protein

Known Diseases associated with this Protein:
  THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
  THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (XLTT)
  THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
  THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
  X-LINKED DYSERYTHROPOIETIC ANEMIA AND THROMBOCYTOPENIA (XDAT)

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Default View: ZnF_GATA - smart00401 ZnF_GATA - cd00202 GATA - pfam00320	Swiss-Prot Protein: P15976 Identical to: NP_002040 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnF_GATA	cd00202	2e-27	257	308
GATA	pfam00320	1.7e-17	204	238
GATA	pfam00320	1e-18	258	292
ZnF_GATA	smart00401	1.6e-19	199	248
ZnF_GATA	smart00401	9.5e-25	253	302

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_033114	Disease	p.ARG216GLN	Thrombocytopenia with beta-thalassemia, X-linked (XLTT)
Swiss-Prot	VAR_012707	Disease	p.ASP218GLY	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
Swiss-Prot	VAR_033115	Disease	p.ASP218TYR	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
Swiss-Prot	VAR_012706	Disease	p.GLY208SER	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
Swiss-Prot	VAR_010115	Disease	p.VAL205MET	X-linked dyserythropoietic anemia and thrombocytopenia (XDAT)
OMIM	305371.0006	Disease	p.ARG216GLN	THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
OMIM	305371.0010	Disease	p.ARG216TRP	THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
OMIM	305371.0002	Disease	p.ASP218GLY	THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
OMIM	305371.0005	Disease	p.ASP218TYR	THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
OMIM	305371.0003	Disease	p.GLY208SER	THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
OMIM	305371.0001	Disease	p.VAL205MET	THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA

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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