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Results for the Protein: NP_000356
4507645

triosephosphate isomerase isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  TPI-HUNGARY
  TPI-MANCHESTER
  TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
  TRIOSEPHOSPHATE ISOMERASE MANCHESTER
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Default View:

TpiA - COG0149
TIM - pfam00121
TIM - cd00311


RefSeq Protein: NP_000356
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TIMcd003111.8e-1407246
TIMpfam001214e-1247245

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM190450.0004 Diseasep.CYS4TYRTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0001 Diseasep.GLU67ASPTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0006 Diseasep.GLU108TERTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0002 Diseasep.GLY85ARGTRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER
OMIM190450.0005 Diseasep.ILE133VALTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0003 Diseasep.PHE203LEUTRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY



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