Results for the protein: P28069

Results for the Protein: P28069

123408

5449

POU1F1

NCBI, UniProt

PIT1_HUMAN RecName: Full=Pituitary-specific positive transcription factor 1; Short=PIT-1; AltName: Full=Growth hormone factor 1; Short=GHF-1

Known Diseases associated with this Protein:
PITUITARY HORMONE DEFICIENCY, COMBINED, 1
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (CPHD1)

24

3

13

0

14

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Default View: POU - smart00352 HOX - smart00389	Swiss-Prot Protein: P28069 Identical to: NP_000297 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HOX	smart00389	3.2e-19	215	270

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003779	Disease	p.ALA158PRO	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_049361	Polymorphism	p.ALA19VAL	N/A
Swiss-Prot	VAR_003778	Disease	p.ARG143GLN	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_063425	Disease	p.ARG172GLN	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_003781	Disease	p.ARG271TRP	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_003780	Polymorphism	p.ASP227TYR	N/A
Swiss-Prot	VAR_003776	Polymorphism	p.GLN4ARG	N/A
Swiss-Prot	VAR_010575	Disease	p.GLU174GLY	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_063427	Disease	p.GLU230LYS	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_010574	Disease	p.PHE135CYS	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_003777	Disease	p.PRO24LEU	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_010576	Disease	p.PRO239SER	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_063426	Disease	p.SER179ARG	Pituitary hormone deficiency, combined, 1 (CPHD1)
Swiss-Prot	VAR_015260	Disease	p.TRP193ARG	Pituitary hormone deficiency, combined, 1 (CPHD1)
OMIM	173110.0003	Disease	p.ALA132PRO	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0005	Disease	p.ARG117GLN	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0013	Disease	p.ARG146GLN	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0001	Disease	p.ARG146TER	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0002	Disease	p.ARG245TRP	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0012	Disease	p.GLU204LYS	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0006	Disease	p.GLU224TER	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0011	Disease	p.LYS119TER	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0007	Disease	p.PHE109CYS	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0004	Disease	p.PRO24LEU	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0008	Disease	p.PRO213SER	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0015	Disease	p.SER153ARG	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
OMIM	173110.0010	Disease	p.TRP167ARG	PITUITARY HORMONE DEFICIENCY, COMBINED, 1

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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