Sequence information
Variant position: 27 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 452 The length of the canonical sequence.
Location on the sequence:
VMAVGGGSRMTDLTSSIPKP
L LPVGNKPLIWYPLNLLERVG
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 VMAV---GGGSRMTDLTS----------------------------------------S--IPKPL LPVGNKPLIWYPLNLLERVG
Rat VMAV---GGGSRMTDLTS-----------------------
Bovine VMAV---GGGSRMTDLTS-----------------------
Caenorhabditis elegans LLCS---GGGTRMPVLTR-----------------------
Slime mold ILATDKASGNSKLEPIDA-----------------------
Baker's yeast VFC----GKGSNLAPFTQPDFPFQTQNKDSTAATSGDKLNE
Fission yeast VFA----GFGNSLYPLTG-----------------------
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 – 452
Translation initiation factor eIF-2B subunit gamma
Beta strand
25 – 28
Literature citations
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T.; Wang X.; Liu R.; Wortham N.C.; Onuki Y.; Kubota A.; Hida A.; Kowa H.; Fukuda Y.; Ishiura H.; Mitsui J.; Takahashi Y.; Aoki S.; Takizawa S.; Shimizu J.; Goto J.; Proud C.G.; Tsuji S.;
Neurogenetics 12:259-261(2011)
Cited for: VARIANT VWM GLN-27;
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.