Variant position: 386 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 721 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TVIGSNCFITNSVIGPGCHI GDNVVLDQTYLWQGVRVAAGA
Mouse TVIGSNCSITNSVIGPNCHI GDNVVLDQAYLWQGVRVAAGA
Rat TVVGSNCSITNSVIGPNCHI GDNVVLDQAYLWQGVRVAAGA
Rabbit TVIGSNCSITNSVIGPGCCI GDNVVLDRAYLWKGVQVASGA
Slime mold TEIGAGSIVSHSTIGRNCII GKNVKINGSYIWDDVTIQDNA
Baker's yeast TKIGEGTKIENSVIGRNCQI GENIRIKNSFIWDDCIIGNNS
Fission yeast TKVGDASVVANTIIGRNCTI GSNCSIDSAFLWEDVVIGDNC
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 721 Translation initiation factor eIF-2B subunit epsilon
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater P.A.J.; Vermeulen G.; Koenst A.A.M.; Naidu S.; Mulders J.; Visser A.; Kersbergen P.; Mobach D.; Fonds D.; van Berkel C.G.M.; Lemmers R.J.L.F.; Frants R.R.; Oudejans C.B.M.; Schutgens R.B.H.; Pronk J.C.; van der Knaap M.S.;
Nat. Genet. 29:383-388(2001)
Cited for: VARIANTS VWM GLY-73; ALA-91; PHE-106; HIS-113; HIS-299; GLY-315; HIS-315; PRO-339; GLN-339; TRP-339; VAL-386; ALA-430; ARG-628 AND LYS-650; VARIANT VAL-587;
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y.; Pan Y.; Du L.; Wang J.; Gu Q.; Gao Z.; Li J.; Leng X.; Qin J.; Wu X.; Jiang Y.;
J. Hum. Genet. 54:74-77(2009)
Cited for: VARIANTS VWM VAL-62; CYS-113; GLN-269; CYS-315; SER-335; PRO-339; ASP-376; VAL-386 AND LEU-447;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.