Results for the protein: Q9UI10

Results for the Protein: Q9UI10

28381357

8890

EIF2B4

NCBI, UniProt

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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Default View:	Swiss-Prot Protein: Q9UI10 Identical to: NP_001029288 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015405	Disease	p.ALA228VAL	Leukodystrophy with vanishing white matter (VWM)
dbSNP	rs34155621	Polymorphism	p.ALA93VAL	N/A
Swiss-Prot	VAR_015408	Disease	p.ARG374CYS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068455	Disease	p.ARG209GLN	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_015407	Disease	p.ARG357GLN	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_015406	Polymorphism	p.ARG306GLY	N/A
Swiss-Prot	VAR_016843	Disease	p.CYS465ARG	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068456	Disease	p.LEU269ARG	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_016844	Disease	p.TYR489HIS	Leukodystrophy with vanishing white matter (VWM)
OMIM	606687.0004	Disease	p.ALA208VAL	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	606687.0002	Disease	p.ARG354CYS	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	606687.0001	Disease	p.ARG337GLN	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	606687.0005	Disease	p.CYS445ARG	OVARIOLEUKODYSTROPHY
OMIM	606687.0006	Disease	p.TYR469HIS	OVARIOLEUKODYSTROPHY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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