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Results for the Protein: P42224
2507413

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
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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 ↕
SH2cd001737.4e-07576668
STAT_intpfam028652e-662122
STAT_alphapfam010171.1e-99136315
STAT_bindpfam028644.5e-178317567
SH2pfam000175.7e-06573668
STAT1_TAZ2bindpfam121621.2e-13715739

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065940Diseasep.ALA267VALCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065942Diseasep.ARG274GLNCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065943Diseasep.ARG274TRPCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065934Diseasep.ASP165GLYCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065935Diseasep.ASP165HISCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065937Diseasep.CYS174ARGCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065817Diseasep.GLN463HISMendelian susceptibility to mycobacterial disease (MSMD)
Swiss-ProtVAR_065941Diseasep.GLN271PROCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065816Diseasep.GLU320GLNMendelian susceptibility to mycobacterial disease (MSMD)
Swiss-ProtVAR_034521Polymorphismp.ILE30THRN/A
Swiss-ProtVAR_018265Diseasep.LEU600PROSTAT1 deficiency complete (STAT1D)
Swiss-ProtVAR_018266Diseasep.LEU706SERMendelian susceptibility to mycobacterial disease (MSMD)
Swiss-ProtVAR_068714Diseasep.LYS673ARGMendelian susceptibility to mycobacterial disease (MSMD)
Swiss-ProtVAR_065815Diseasep.LYS201ASNSTAT1 deficiency complete (STAT1D)
Swiss-ProtVAR_068713Diseasep.LYS637GLUMendelian susceptibility to mycobacterial disease (MSMD)
Swiss-ProtVAR_065944Diseasep.LYS286ILECandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065938Diseasep.MET202ILECandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065939Diseasep.MET202VALCandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_036001Polymorphismp.PRO491ALAN/A
Swiss-ProtVAR_065945Diseasep.THR288ALACandidiasis, familial, 7 (CANDF7)
Swiss-ProtVAR_065936Diseasep.TYR170ASNCandidiasis, familial, 7 (CANDF7)
OMIM600555.0009 Diseasep.ALA267VALCANDIDIASIS, FAMILIAL, 7
OMIM600555.0010 Diseasep.ARG274GLNCANDIDIASIS, FAMILIAL, 7
OMIM600555.0008 Diseasep.ARG274TRPCANDIDIASIS, FAMILIAL, 7
OMIM600555.0014 Diseasep.ASP165GLYCANDIDIASIS, FAMILIAL, 7
OMIM600555.0017 Diseasep.ASP165HISCANDIDIASIS, FAMILIAL, 7
OMIM600555.0013 Diseasep.CYS174ARGCANDIDIASIS, FAMILIAL, 7
OMIM600555.0004 Diseasep.GLN463HISATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
OMIM600555.0019 Diseasep.GLN271PROCANDIDIASIS, FAMILIAL, 7
OMIM600555.0005 Diseasep.GLU320GLNATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
OMIM600555.0003 Diseasep.LEU600PROMYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
OMIM600555.0001 Diseasep.LEU706SERATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
OMIM600555.0007 Diseasep.LYS201ASNMYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
OMIM600555.0011 Diseasep.LYS286ILECANDIDIASIS, FAMILIAL, 7
OMIM600555.0018 Diseasep.MET202ILECANDIDIASIS, FAMILIAL, 7
OMIM600555.0012 Diseasep.MET202VALCANDIDIASIS, FAMILIAL, 7
OMIM600555.0015 Diseasep.THR288ALACANDIDIASIS, FAMILIAL, 7
OMIM600555.0016 Diseasep.TYR170ASNCANDIDIASIS, FAMILIAL, 7



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