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Results for the Protein: NP_001135858
215422338

pyruvate dehydrogenase kinase, isozyme 3 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (1 FAMILY)
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Default View:

BaeS - COG0642
BCDHK_Adom3 - pfam10436
HATPase_c - smart00387
HATPase_c - pfam02518
HATPase_c - cd00075




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BaeSCOG06420.000462367
HATPase_ccd000751.5e-14241358
HATPase_cpfam025186.2e-20236361
BCDHK_Adom3pfam104362.3e-7825189
HATPase_csmart003871.8e-15236361

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300906.0001 Diseasep.ARG158HISCHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (1 family)



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