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Results for the Protein: P60174
353526311

TPIS_HUMAN RecName: Full=Triosephosphate isomerase; Short=TIM; AltName: Full=Triose-phosphate isomerase

Known Diseases associated with this Protein:
  TPI-HUNGARY
  TPI-MANCHESTER
  TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
  TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (TPID)
  TRIOSEPHOSPHATE ISOMERASE MANCHESTER
13
1
6
0
8
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Default View:

TpiA - COG0149
TIM - pfam00121
TIM - cd00311


Swiss-Prot Protein: P60174
Identical to: NP_001152759
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TpiACOG01492.9e-11041285
TIMcd003111.8e-14044283
TIMpfam001214e-12444282

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007534Diseasep.CYS79TYRTriosephosphate isomerase deficiency (TPID)
Swiss-ProtVAR_007536Diseasep.GLU142ASPTriosephosphate isomerase deficiency (TPID)
Swiss-ProtVAR_007535Diseasep.GLY110ALATriosephosphate isomerase deficiency (TPID)
Swiss-ProtVAR_007537Polymorphismp.GLY160ARGN/A
Swiss-ProtVAR_007539Diseasep.ILE208VALTriosephosphate isomerase deficiency (TPID)
Swiss-ProtVAR_007541Diseasep.PHE278LEUTriosephosphate isomerase deficiency (TPID)
Swiss-ProtVAR_007538Diseasep.VAL192METTriosephosphate isomerase deficiency (TPID)
Swiss-ProtVAR_007540Diseasep.VAL269METTriosephosphate isomerase deficiency (TPID)
OMIM190450.0004 Diseasep.CYS41TYRTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0001 Diseasep.GLU104ASPTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0006 Diseasep.GLU145TERTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0002 Diseasep.GLY122ARGTRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER
OMIM190450.0005 Diseasep.ILE170VALTRIOSEPHOSPHATE ISOMERASE DEFICIENCY
OMIM190450.0003 Diseasep.PHE240LEUTRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY



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