Results for the protein: NP

Results for the Protein: NP_644671

21536301

6772

STAT1

NCBI

signal transducer and activator of transcription 1-alpha/beta isoform beta [Homo sapiens]

Known Diseases associated with this Protein:
  ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
  CANDIDIASIS, FAMILIAL, 7
  MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE

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Default View: STAT_int - pfam02865 STAT_alpha - pfam01017 STAT_bind - pfam02864 SH2 - pfam00017 SH2 - cd00173	RefSeq Protein: NP_644671 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
STAT_int	pfam02865	2e-66	2	122
STAT_alpha	pfam01017	1.1e-99	136	315
STAT_bind	pfam02864	4.5e-178	317	567
SH2	pfam00017	5.7e-06	573	668

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	600555.0009	Disease	p.ALA267VAL	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0010	Disease	p.ARG274GLN	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0008	Disease	p.ARG274TRP	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0014	Disease	p.ASP165GLY	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0017	Disease	p.ASP165HIS	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0013	Disease	p.CYS174ARG	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0004	Disease	p.GLN463HIS	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
OMIM	600555.0019	Disease	p.GLN271PRO	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0005	Disease	p.GLU320GLN	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
OMIM	600555.0003	Disease	p.LEU600PRO	MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
OMIM	600555.0001	Disease	p.LEU706SER	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
OMIM	600555.0007	Disease	p.LYS201ASN	MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
OMIM	600555.0011	Disease	p.LYS286ILE	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0018	Disease	p.MET202ILE	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0012	Disease	p.MET202VAL	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0015	Disease	p.THR288ALA	CANDIDIASIS, FAMILIAL, 7
OMIM	600555.0016	Disease	p.TYR170ASN	CANDIDIASIS, FAMILIAL, 7

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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