Sequence information
Variant position: 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 351 The length of the canonical sequence.
Location on the sequence:
TLALAAKHHSTPLIVCAPMF
K LSPQFPNEEDSFHKFVAPEE
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 TLALAAKHHSTPLIVCAPMFK LSPQFPNEEDSFHKFVAPEE
Mouse TLALAAKHHSTPLIVCAPMFK LSPQFPSEEDSFHKFVAPEE
Rat TLALAAKHHSTPLIVCAPMFK LSPQFPSEEDSFHKFVAPEE
Bovine TLALAAKHHSTPLIVCAPMFK LSPQFPNEEDSFHKFVAPEE
Rabbit TLALAAKHHSTPLIVCAPMFK LSPQFPNEEDSFHKFVAPEE
Slime mold TLAVAAKYHSVPIVVCTGLYK LCPLYAYDQDTFNNFGSPGE
Baker's yeast SVCECAREFRTPVFAVAGLYK LSPLYPFDVEKFVEFGGSQR
Fission yeast LVAQAARHHATPVVVCSGIYK LSPVYPYDLESIIQLSSPDK
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
Chain
1 – 351
Translation initiation factor eIF-2B subunit beta
Helix
271 – 273
Literature citations
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-213; ARG-273; ASP-316 AND VAL-329;
Disclaimer:
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.