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Results for the Protein: P15260
124474

INGR1_HUMAN RecName: Full=Interferon gamma receptor 1; Short=IFN-gamma receptor 1; Short=IFN-gamma-R1; AltName: Full=CDw119; AltName: CD_antigen=CD119; Flags: Precursor

Known Diseases associated with this Protein:
  ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED
  ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED FAMILIAL
  BCG INFECTION, TUBERCULOID, ANTIBIOTIC-RESPONSIVE
  MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE (MSMD)
  MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY
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Default View:

Tissue_fac - pfam01108
IFNGR1 - pfam07140


Swiss-Prot Protein: P15260
Identical to: NP_000407
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tissue_facpfam011082.2e-2223113
IFNGR1pfam071401.8e-104161348

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017577Diseasep.CYS77TYRMendelian susceptibility to mycobacterial disease (MSMD)
Swiss-ProtVAR_019282Polymorphismp.HIS335PRON/A
Swiss-ProtVAR_017578Diseasep.ILE87THRMendelian susceptibility to mycobacterial disease (MSMD)
dbSNPrs1887415 Polymorphismp.LEU467PRON/A
Swiss-ProtVAR_019281Polymorphismp.VAL61ILEN/A
OMIM107470.0008 Diseasep.CYS77TYRATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED FAMILIAL
OMIM107470.0003 Diseasep.ILE87THRBCG INFECTION, TUBERCULOID, ANTIBIOTIC-RESPONSIVE||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY
OMIM107470.0009 Diseasep.VAL61GLNATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED



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