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Results for the Protein: Q9UI10
28381357

EI2BD_HUMAN RecName: Full=Translation initiation factor eIF-2B subunit delta; AltName: Full=eIF-2B GDP-GTP exchange factor subunit delta

Known Diseases associated with this Protein:
  LEUKODYSTROPHY WITH VANISHING WHITE MATTER (VWM)
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
  OVARIOLEUKODYSTROPHY
12
2
5
1
8
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Swiss-Prot Protein: Q9UI10
Identical to: NP_001029288
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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_015405Diseasep.ALA228VALLeukodystrophy with vanishing white matter (VWM)
dbSNPrs34155621 Polymorphismp.ALA93VALN/A
Swiss-ProtVAR_015408Diseasep.ARG374CYSLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068455Diseasep.ARG209GLNLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_015407Diseasep.ARG357GLNLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_015406Polymorphismp.ARG306GLYN/A
Swiss-ProtVAR_016843Diseasep.CYS465ARGLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068456Diseasep.LEU269ARGLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_016844Diseasep.TYR489HISLeukodystrophy with vanishing white matter (VWM)
OMIM606687.0004 Diseasep.ALA208VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0002 Diseasep.ARG354CYSLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0001 Diseasep.ARG337GLNLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0005 Diseasep.CYS445ARGOVARIOLEUKODYSTROPHY
OMIM606687.0006 Diseasep.TYR469HISOVARIOLEUKODYSTROPHY



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