Results for the protein: P42224

Results for the Protein: P42224

2507413

6772

STAT1

NCBI, UniProt

STAT1_HUMAN RecName: Full=Signal transducer and activator of transcription 1-alpha/beta; AltName: Full=Transcription factor ISGF-3 components p91/p84

Known Diseases associated with this Protein:
  ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
  CANDIDIASIS, FAMILIAL, 7
  CANDIDIASIS, FAMILIAL, 7 (CANDF7)
  MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE (MSMD)
  MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
  STAT1 DEFICIENCY COMPLETE (STAT1D)

36

2

17

0

21

Tips:

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Default View: STAT_int - pfam02865 STAT_alpha - pfam01017 STAT_bind - pfam02864 SH2 - pfam00017 SH2 - cd00173 STAT1_TAZ2bind - pfam12162	Swiss-Prot Protein: P42224 Identical to: NP_009330 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
STAT1_TAZ2bind	pfam12162	1.2e-13	715	739

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065940	Disease	p.ALA267VAL	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065942	Disease	p.ARG274GLN	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065943	Disease	p.ARG274TRP	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065934	Disease	p.ASP165GLY	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065935	Disease	p.ASP165HIS	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065937	Disease	p.CYS174ARG	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065817	Disease	p.GLN463HIS	Mendelian susceptibility to mycobacterial disease (MSMD)
Swiss-Prot	VAR_065941	Disease	p.GLN271PRO	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065816	Disease	p.GLU320GLN	Mendelian susceptibility to mycobacterial disease (MSMD)
Swiss-Prot	VAR_034521	Polymorphism	p.ILE30THR	N/A
Swiss-Prot	VAR_018265	Disease	p.LEU600PRO	STAT1 deficiency complete (STAT1D)
Swiss-Prot	VAR_018266	Disease	p.LEU706SER	Mendelian susceptibility to mycobacterial disease (MSMD)
Swiss-Prot	VAR_068714	Disease	p.LYS673ARG	Mendelian susceptibility to mycobacterial disease (MSMD)
Swiss-Prot	VAR_065815	Disease	p.LYS201ASN	STAT1 deficiency complete (STAT1D)
Swiss-Prot	VAR_068713	Disease	p.LYS637GLU	Mendelian susceptibility to mycobacterial disease (MSMD)
Swiss-Prot	VAR_065944	Disease	p.LYS286ILE	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065938	Disease	p.MET202ILE	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065939	Disease	p.MET202VAL	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_036001	Polymorphism	p.PRO491ALA	N/A
Swiss-Prot	VAR_065945	Disease	p.THR288ALA	Candidiasis, familial, 7 (CANDF7)
Swiss-Prot	VAR_065936	Disease	p.TYR170ASN	Candidiasis, familial, 7 (CANDF7)
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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