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Results for the Protein: Q9HC21
20137652

TPC_HUMAN RecName: Full=Mitochondrial thiamine pyrophosphate carrier; AltName: Full=Mitochondrial uncoupling protein 1; AltName: Full=Solute carrier family 25 member 19

Known Diseases associated with this Protein:
  AND PROGRESSIVE POLYNEUROPATHY TYPE)
  MICROCEPHALY, AMISH TYPE
  MICROCEPHALY, AMISH TYPE (MCPHA)
  THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION
  THIAMINE METABOLISM DYSFUNCTION SYNDROME 4, BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE (THMD4)
4
0
2
0
2
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014103Diseasep.GLY177ALAMicrocephaly, Amish type (MCPHA)
Swiss-ProtVAR_065125Diseasep.GLY125SERThiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4)
OMIM606521.0001 Diseasep.GLY177ALAMICROCEPHALY, AMISH TYPE
OMIM606521.0002 Diseasep.GLY125SERTHIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION||AND PROGRESSIVE POLYNEUROPATHY TYPE)



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