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Results for the Protein: Q9NR50
18203317

EI2BG_HUMAN RecName: Full=Translation initiation factor eIF-2B subunit gamma; AltName: Full=eIF-2B GDP-GTP exchange factor subunit gamma

Known Diseases associated with this Protein:
  LEUKODYSTROPHY WITH VANISHING WHITE MATTER (VWM)
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
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Swiss-Prot Protein: Q9NR50
Identical to: NP_065098
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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_015409Diseasep.ALA87VALLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_015410Diseasep.ARG225GLNLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_048920Polymorphismp.ASP288GLUN/A
Swiss-ProtVAR_068471Diseasep.GLY47GLULeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068472Diseasep.ILE346THRLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068470Diseasep.LEU27GLNLeukodystrophy with vanishing white matter (VWM)
OMIM606273.0003 Diseasep.ALA87VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606273.0001 Diseasep.ARG225GLNLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606273.0004 Diseasep.ILE346THRLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606273.0005 Diseasep.LEU27GLNLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET



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