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Results for the Protein: P09693
115993
917

CD3G_HUMAN RecName: Full=T-cell surface glycoprotein CD3 gamma chain; AltName: Full=T-cell receptor T3 gamma chain; AltName: CD_antigen=CD3g; Flags: Precursor

Known Diseases associated with this Protein:
  IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA
1
1
1
1
0
Tips:
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Default View:

Ig_CD3_gamma_delta - cd07691
IGc2 - smart00408
ITAM - smart00077
ITAM - pfam02189


Swiss-Prot Protein: P09693
Identical to: NP_000064
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ITAMpfam021893.3e-06157177
IGc2smart004081.1e-113894
ITAMsmart000773.7e-06157177

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3753058 Polymorphismp.VAL131PHEN/A
OMIM186740.0001 Diseasep.MET1VALIMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA



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