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Results for the Protein: Q9H936
34222632

GHC1_HUMAN RecName: Full=Mitochondrial glutamate carrier 1; Short=GC-1; AltName: Full=Glutamate/H(+) symporter 1; AltName: Full=Solute carrier family 25 member 22

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 (EIEE3)
3
1
2
1
1
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Default View:

Mito_carr - pfam00153




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Mito_carrpfam001531e-29498
Mito_carrpfam001531.1e-1699219
Mito_carrpfam001534.3e-19221314

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111277421 Polymorphismp.LEU150VALN/A
Swiss-ProtVAR_022737Diseasep.PRO206LEUEpileptic encephalopathy, early infantile, 3 (EIEE3)
OMIM609302.0002 Diseasep.GLY236TRPEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
OMIM609302.0001 Diseasep.PRO206LEUEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3



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