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Results for the Protein: NP_751945
187607323

translation initiation factor eIF-2B subunit delta isoform 1 [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_751945
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GCD2COG11841.4e-74222541
COG0182COG01820.00059261540
IF-2Bpfam010083.4e-127238529

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34155621 Polymorphismp.ALA113VALN/A
OMIM606687.0004 Diseasep.ALA228VALLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0002 Diseasep.ARG374CYSLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0001 Diseasep.ARG357GLNLEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM606687.0005 Diseasep.CYS465ARGOVARIOLEUKODYSTROPHY
OMIM606687.0006 Diseasep.TYR489HISOVARIOLEUKODYSTROPHY



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