Variant position: 329 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 HCPVFDYVPPELITLFISNI GGNAPSYIYRLMSELYHPDDH
Mouse HCPVFDYVPPDLITLFISNI GGNAPSYIYRLMSELYHPDDH
Rat HCPVFDYVPPDLITLFISNI GGNAPSYVYRLMSELYHPDDH
Bovine HCPVFDYVPPELITLFISNI GGNAPSYIYRLMSELYHPDDH
Rabbit HCPVFDYVPPELITLFISNI GGNAPSYIYRLMSELYHPEDH
Slime mold YNPTFDYVAPDLVSLFITNI GGHNPSYIYRLLQEYYDARDI
Baker's yeast VNQITDYVPPENIDIYITNV GGFNPSFIYRIAWDNYKQIDV
Fission yeast LNPYYDYIPPDLVDLFITNL GGYPPSYLYRIMNDTYDASDT
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
329 – 331
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;
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