Variant position: 225 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:
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 YCLKKYIVDFLMENGS-----ITSI RSELIPYLVRKQFSSASSQQG
Rat YCLKKYVVDFLMENKS-----ITSI RSELIPYLVRKQFSSA
Bovine YCLKKYVVDFLMENKS-----ITSI RSELIPYLVRKQFSSA
Caenorhabditis elegans YAIRHKVLLNLSKSKH-----ISSF KADFVPLLIDKQFEPD
Slime mold YIFSRWVLDLIIEDQKEKYPLFFDI KKHLIPYLLSCQIPNI
Baker's yeast Y-FCSFELCQLLKLGPQSMSRQASF KDPFTGNQ-QQQNPPT
Fission yeast FVFKHWVIDLIREKES-----ISSI RGDLIPYLVKCQYQKS
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 – 452 Translation initiation factor eIF-2B subunit gamma
224 – 226
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-87 AND GLN-225;
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y.; Pan Y.; Du L.; Wang J.; Gu Q.; Gao Z.; Li J.; Leng X.; Qin J.; Wu X.; Jiang Y.;
J. Hum. Genet. 54:74-77(2009)
Cited for: VARIANTS VWM GLU-47; GLN-225 AND THR-346;
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