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Results for the Protein: P49770
6226858

EI2BB_HUMAN RecName: Full=Translation initiation factor eIF-2B subunit beta; AltName: Full=S20I15; AltName: Full=S20III15; AltName: Full=eIF-2B GDP-GTP exchange factor subunit beta

Known Diseases associated with this Protein:
  LEUKODYSTROPHY WITH VANISHING WHITE MATTER (VWM)
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
  OVARIOLEUKODYSTROPHY
  OVARIOLEUKODYSTROPHY, INCLUDED
14
0
5
0
9
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Swiss-Prot Protein: P49770
Identical to: NP_055054
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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_068454Diseasep.CYS268TYRLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012289Diseasep.GLU213GLYLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068453Diseasep.GLY200VALLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012322Diseasep.GLY329VALLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012321Diseasep.LYS273ARGLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068452Diseasep.PRO196SERLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_016842Diseasep.SER171PHELeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012290Diseasep.VAL316ASPLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068451Diseasep.VAL85GLULeukodystrophy with vanishing white matter (VWM)
OMIM606454.0003 Diseasep.ARG183TEROVARIOLEUKODYSTROPHY
OMIM606454.0001 Diseasep.GLU213GLYLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY, INCLUDED
OMIM606454.0004 Diseasep.SER171PHEOVARIOLEUKODYSTROPHY
OMIM606454.0002 Diseasep.VAL316ASPLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606454.0006 Diseasep.VAL85GLULEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET



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