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Results for the Protein: P00813
113339
100
ADA

ADA_HUMAN RecName: Full=Adenosine deaminase; AltName: Full=Adenosine aminohydrolase

Known Diseases associated with this Protein:
  ADENOSINE DEAMINASE 2 ALLOZYME
  ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
  B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-NEGATIVE DUE TO ADENOSINE D
  SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
50
5
23
1
31
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Default View:

Add - COG1816
ADA - cd01320
A_deaminase - pfam00962
ADA_AMPD - cd00443
metallo-dependent_hy - cd01292


Swiss-Prot Protein: P00813
Identical to: NP_000013
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ADAcd013202.2e-1668347
ADA_AMPDcd004434.5e-1179347
metallo-dependent_hycd012928e-4611332
A_deaminasepfam009624e-1428346

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002229Diseasep.ALA179ASPSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002215Diseasep.ALA83ASPSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002233Diseasep.ALA215THRSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002240Diseasep.ALA329VALSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002226Diseasep.ARG156CYSSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002231Diseasep.ARG211CYSSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002218Diseasep.ARG101GLNSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002222Polymorphismp.ARG142GLNN/A
Swiss-ProtVAR_002223Diseasep.ARG149GLNSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002227Diseasep.ARG156HISSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002232Diseasep.ARG211HISSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002216Diseasep.ARG101LEUSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002217Diseasep.ARG101TRPSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002224Diseasep.ARG149TRPSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002213Diseasep.ARG76TRPSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002209Polymorphismp.ASP8ASNN/A
Swiss-ProtVAR_002230Diseasep.GLN199PROSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002211Diseasep.GLY20ARGSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002234Diseasep.GLY216ARGSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002212Diseasep.GLY74CYSSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002221Diseasep.GLY140GLUSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002210Diseasep.HIS15ASPSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002239Diseasep.LEU304ARGSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002225Polymorphismp.LEU152METN/A
Swiss-ProtVAR_002219Diseasep.LEU107PROSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
dbSNPrs11555566 Polymorphismp.LYS80ARGN/A
Swiss-ProtVAR_002238Diseasep.PRO297GLNSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002236Diseasep.PRO274LEUSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002237Diseasep.SER291LEUSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002235Polymorphismp.THR233ILEN/A
Swiss-ProtVAR_002220Diseasep.VAL129METSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
Swiss-ProtVAR_002228Diseasep.VAL177METSevere combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d
OMIM608958.0015 Diseasep.ALA215THRADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0006 Diseasep.ALA329VALSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0018 Diseasep.ARG156CYSSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0014 Diseasep.ARG211CYSADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0003 Diseasep.ARG101GLNSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0011 Diseasep.ARG149GLNADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0032 Diseasep.ARG156HISSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0004 Diseasep.ARG211HISSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0002 Diseasep.ARG101TRPSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0010 Diseasep.ARG76TRPADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0021 Diseasep.ASP8ASNADENOSINE DEAMINASE 2 ALLOZYME
OMIM608958.0016 Diseasep.GLY216ARGSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0025 Diseasep.GLY74VALSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0005 Diseasep.LEU304ARGSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0027 Diseasep.LEU152METADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0013 Diseasep.LEU107PROSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0029 Diseasep.LEU106VALSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0001 Diseasep.LYS80ARGRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM608958.0009 Diseasep.PRO297GLNADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0012 Diseasep.PRO274LEUADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0019 Diseasep.SER291LEUSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
OMIM608958.0028 Diseasep.THR233ILEADENOSINE DEAMINASE DEFICIENCY, PARTIAL
OMIM608958.0029 Diseasep.TYR97CYSSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO



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