Variant position: 85 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 GRRMTAAQPSETTVGNMVRR VLKIIREEY-----GRLHGRSDE-------------SDQ
Mouse GRRMTAAQPSETTVGNMVRR VLKIIREEY-----GRLHGRS
Rat GRRMTAAHPPETTVGNMVRR VLKIIREEY-----GRLHGRS
Bovine GRRMTAAQPSETTVGNMVRR VLRIIREEY-----GRLHGRS
Rabbit GRRMMAAQPSETTVGNMVRR VLKIIREEY-----GRLHGRS
Slime mold GKKLMNAQPLEFCIGNIVRR VLFIIREEYLTFFRNKKNGLN
Baker's yeast GNSLEKAHPTAFSCGNVIRR ILAVLRDEV------------
Fission yeast GSTLVKAQPTEFSCGNIIRR ILRLIREEY-----QELLKTA
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
76 – 95
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.;
Cited for: VARIANT VWM GLU-85;
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