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Results for the Protein: P55263
6840802
132
ADK

ADK_HUMAN RecName: Full=Adenosine kinase; Short=AK; AltName: Full=Adenosine 5'-phosphotransferase

Known Diseases associated with this Protein:
  HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
  HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (HMAKD)
6
0
3
0
3
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

adenosine_kinase - cd01168
RbsK - COG0524
ribokinase_group_A - cd01942
ribokinase_pfkB_like - cd00287
YegV_kinase_like - cd01944
Guanosine_kinase_lik - cd01947
PfkB - pfam00294
KdgK - cd01166
bac_FRK - cd01167
Fructoselysine_kinas - cd01940
YeiC_kinase_like - cd01941
ribokinase - cd01174


Swiss-Prot Protein: P55263
Identical to: NP_006712
   Default View:














Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
adenosine_kinasecd011681.3e-16323356
ribokinase_pfkB_likecd002874.9e-7925328
ribokinase_group_Acd019421.6e-0625354
RbsKCOG05244.7e-2925362
YegV_kinase_likecd019442.5e-0632352
Guanosine_kinase_likcd019470.0001235354
KdgKcd011667.6e-0955354
bac_FRKcd011676.4e-0965354
Fructoselysine_kinascd019408.2e-0567355
YeiC_kinase_likecd019419.6e-0668350
ribokinasecd011743.5e-1173360
PfkBpfam002946.1e-8442360

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066642Diseasep.ALA318GLUHypermethioninemia due to adenosine kinase deficiency (HMAKD)
Swiss-ProtVAR_066641Diseasep.ASP235ALAHypermethioninemia due to adenosine kinase deficiency (HMAKD)
Swiss-ProtVAR_066640Diseasep.GLY30GLUHypermethioninemia due to adenosine kinase deficiency (HMAKD)
OMIM102750.0001 Diseasep.ALA301GLUHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
OMIM102750.0002 Diseasep.ASP218ALAHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
OMIM102750.0003 Diseasep.GLY13GLUHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY



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