Variant position: 374 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 523 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 RRFRVVVVDSRPWLEGRHTL RSLVHAGVPASYLLIPAASYV
Mouse RRFRVVVVDSRPRLEGRHML HSLVRAGVPTSYLLIPAASYV
Rat RRFRVVVVDSRPRLEGRHML HCLVRAGVPTSYLLIPAASYV
Bovine RQFRVVVVDSRPRLEAKHTL RSLVRAGVPASYLLIPAASYV
Rabbit RKFRVVVVDSRPRLEGRHML RFLVRAGVPASYLLIPAASYV
Slime mold KKFRLIIVDSRPKHEGRELL HRLVLHGVKITYIMLHAVSYI
Baker's yeast KNIKVIVVDSRPLFEGRKMA ETLRNAGVNVMYALITSLDTI
Fission yeast KKFRVVVVDSRPEFEGRVCL KLLTEHGIECTYVMISALSYI
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
2 – 523 Translation initiation factor eIF-2B subunit delta
369 – 378
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: VARIANTS VWM VAL-228; GLN-357 AND CYS-374; VARIANT GLY-306;
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A.; Henneke M.; Brockmann K.; Goerg M.; Hanefeld F.; Kohlschutter A.; Gartner J.;
Hum. Mutat. 25:411-411(2005)
Cited for: VARIANTS VWM GLN-209; ARG-269 AND CYS-374;
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