Variant position: 268 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:
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 V-TGTHTLALAAKHHSTPLIV CAPMFKLSPQFPNEEDSFHKF
Mouse V-AGTHTLALAAKHHSTPLIV CAPMFKLSPQFPSEEDSFHK
Rat V-AGTHTLALAAKHHSTPLIV CAPMFKLSPQFPSEEDSFHK
Bovine V-AGTHTLALAAKHHSTPLIV CAPMFKLSPQFPNEEDSFHK
Rabbit V-TGTHTLALAAKHHSTPLIV CAPMFKLSPQFPNEEDSFHK
Slime mold T-SGTHTLAVAAKYHSVPIVV CTGLYKLCPLYAYDQDTFNN
Baker's yeast SNSGVSSVCECAREFRTPVFA VAGLYKLSPLYPFDVEKFVE
Fission yeast Y-SGAQLVAQAARHHATPVVV CSGIYKLSPVYPYDLESIIQ
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
1 – 351 Translation initiation factor eIF-2B subunit beta
265 – 268
Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
Alsalem A.; Shaheen R.; Alkuraya F.S.;
Cited for: VARIANT VWM TYR-268;
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.