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Results for the Protein: NP_056451
78000156

translation initiation factor eIF-2B subunit delta isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
  OVARIOLEUKODYSTROPHY
5
1
5
1
0
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Default View:

GCD2 - COG1184
IF-2B - pfam01008
COG0182 - COG0182


RefSeq Protein: NP_056451
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GCD2COG11841.4e-74201520
COG0182COG01820.00059240519
IF-2Bpfam010083.4e-127217508

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34155621 Polymorphismp.ALA92VALN/A
OMIM606687.0004 Diseasep.ALA207VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0002 Diseasep.ARG353CYSLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0001 Diseasep.ARG336GLNLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0005 Diseasep.CYS444ARGOVARIOLEUKODYSTROPHY
OMIM606687.0006 Diseasep.TYR468HISOVARIOLEUKODYSTROPHY



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