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Results for the Protein: NP_001244955
384475517

triosephosphate isomerase isoform 3 [Homo sapiens]

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

TIM - pfam00121
TpiA - COG0149
TIM - cd00311




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TpiACOG01494.2e-421166
TIMpfam001219.9e-491163

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM190450.0006 Diseasep.GLU26TERTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0002 Diseasep.GLY3ARGTRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER
OMIM190450.0005 Diseasep.ILE51VALTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0003 Diseasep.PHE121LEUTRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY



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