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Results for the Protein: Q13144
160359049

EI2BE_HUMAN RecName: Full=Translation initiation factor eIF-2B subunit epsilon; AltName: Full=eIF-2B GDP-GTP exchange factor subunit epsilon

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
41
2
12
1
30
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

GCD1 - COG1208
eIF-2B_gamma_N - cd04198
eIF-2B_epsilon_N - cd04197
eIF-2B_gamma_N_like - cd02507
NTP_transferase - cd04181
LbH_G1P_TT_C_like - cd05636
LbH_LpxD - cd03352
LbH_WxcM_N_like - cd03358
LbH_G1P_AT_C - cd04651
LbH_eIF2B_epsilon - cd05787
LbH_eIF2B_gamma_C - cd04652
LbH_G1P_AT_C_like - cd03356
eIF5C - smart00515
W2 - pfam02020


Swiss-Prot Protein: Q13144
Identical to: NP_003898
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GCD1COG12082.9e-1742438
eIF-2B_gamma_N_likecd025074.1e-8943257
eIF-2B_epsilon_Ncd041972.3e-12743257
eIF-2B_gamma_Ncd041981e-0743257
NTP_transferasecd041816.6e-0545267
LbH_G1P_TT_C_likecd056360.00085331450
LbH_LpxDcd033521.1e-05341478
LbH_WxcM_N_likecd033580.00038345444
LbH_G1P_AT_Ccd046514.1e-07346443
LbH_G1P_AT_C_likecd033566e-35361439
LbH_eIF2B_gamma_Ccd046522e-08361441
LbH_eIF2B_epsiloncd057877.3e-42361439
W2pfam020209.9e-21642713
eIF5Csmart005153.7e-32629713

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068459Diseasep.ALA74THRLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068460Diseasep.ARG113CYSLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_016845Diseasep.ARG195CYSLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068465Diseasep.ARG315CYSLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068462Diseasep.ARG269GLNLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012329Diseasep.ARG339GLNLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068461Diseasep.ARG269GLYLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012326Diseasep.ARG315GLYLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012292Diseasep.ARG113HISLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_016846Diseasep.ARG195HISLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012325Diseasep.ARG299HISLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012327Diseasep.ARG315HISLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012328Diseasep.ARG339PROLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012330Diseasep.ARG339TRPLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068468Diseasep.ASN376ASPLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_048919Polymorphismp.ASN200THRN/A
Swiss-ProtVAR_068463Diseasep.ASP270HISLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068457Diseasep.ASP62VALLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068466Diseasep.CYS335ARGLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068464Diseasep.CYS310PHELeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068467Diseasep.CYS335SERLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012333Diseasep.GLU650LYSLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012293Diseasep.GLY386VALLeukodystrophy with vanishing white matter (VWM)
dbSNPrs843358 Polymorphismp.ILE587VALN/A
Swiss-ProtVAR_012324Diseasep.LEU106PHELeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068458Diseasep.LEU68SERLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_068469Diseasep.SER447LEULeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012291Diseasep.THR91ALALeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012294Diseasep.TRP628ARGLeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012331Diseasep.VAL430ALALeukodystrophy with vanishing white matter (VWM)
Swiss-ProtVAR_012323Diseasep.VAL73GLYLeukodystrophy with vanishing white matter (VWM)
OMIM603945.0007 Diseasep.ARG195CYSOVARIOLEUKODYSTROPHY
OMIM603945.0004 Diseasep.ARG113HISLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET||OVARIOLEUKODYSTROPHY, INCLUDED
OMIM603945.0005 Diseasep.ARG195HISLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0009 Diseasep.ARG315HISLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0012 Diseasep.ASP270HISLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
OMIM603945.0003 Diseasep.GLY386VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0006 Diseasep.LEU309VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0011 Diseasep.PHE56CYSLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0010 Diseasep.PHE56VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0001 Diseasep.THR91ALALEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM603945.0008 Diseasep.THR182METLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
OMIM603945.0002 Diseasep.TRP628ARGLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER



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