Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease

Table 1 VWM associated mutations in EIF2B1

DNA^a	Protein^b	Disease severity	Zygosity	Reference
IVS2+1G>A^c	p.Ser84ins22aa, stop	Not reported	Heterozygous with Asn208Tyr	[7]
c.547G>T	p.Val183Phe	Juvenile/Adult onset	Homozygous	[27]
c.610-612delGGA	p.Gly204Δ	Not reported	Heterozygous with Tyr275Cys	[33]
c.622A>T	p.Asn208Tyr	Not reported	Heterozygous with IVS2+1G>A	[7]
c.824A>G	p.Tyr275Cys	Not reported	Heterozygous with Gly204Δ	[33]
c.833C>G	p.Pro278Arg	Not reported	Homozygous	[34]

^aNumbering starts with A of ATG start codon corresponding to nucleotide 82 of Genbank ID BC103763.1; G>A mutation of guanosine to adenosine; del = deletion
^bNumbering starts with first methionine of Genbank ID AAI03764; Val183Phe = mutation of threonine 183 to phenylalanine; Gly204Δ = deletion of glycine 204; ins = insertion; aa = amino acid
^cMutation of first nucleotide of intron 2; IVS = intervening sequence

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