Variant position: 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 305 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 EKADLVIVGAEGVVENGGII NKIGTNQMAVCAKAQNKPFYV
Mouse EKADLVIVGAEGVVENGGII NKIGTNQMAVCAKAQNKPFYV
Rat EKVDLVIVGAEGVVENGGII NKIGTNQMAVCAKAQNKPFYV
Bovine EKVDLVIVGAEGVVENGGII NKIGTNQMAVCAKAQNKPFYV
Caenorhabditis elegans ERIQAVLVGAEGVMETGGII NKIGTVNVCIIAKSRHVPVYV
Slime mold DKVDYVLVGAEAIVENGGIV NKIGTYQISIVAKAFKKPFYV
Baker's yeast DKVDKVFVGAEGVAESGGII NLVGTYSVGVLAHNARKPFYV
Fission yeast NRVDLVLVGAEGVVENGGLI NQIGTFQLAVFAKHAHKPFYA
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 – 305 Translation initiation factor eIF-2B subunit alpha
162 – 222 KKMAKALCHLNVPVTVVLDAAVGYIMEKADLVIVGAEGVVENGGIINKIGTNQMAVCAKAQ -> QVPFCSVMCPAIILQSKLRITVQQDQNQNVPPACQQSALPFIVPFPAFGRKITEFAAGRSI. In isoform 2.
206 – 209
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
van der Knaap M.S.; Leegwater P.A.J.; Koenst A.A.M.; Visser A.; Naidu S.; Oudejans C.B.M.; Schutgens R.B.H.; Pronk J.C.;
Ann. Neurol. 51:264-270(2002)
Cited for: VARIANT VWM TYR-208;
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