Sequence information
Variant position: 213 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:
ECAPFCQGHEMAVNLSKAGI
E TTVMTDAAIFAVMSRVNKVI
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 ECAPFCQ--GHEMAVNLSKAGIE TTVMTDAAIFAVMSRVNKVI
Mouse ECAPFCQ--GHEMAVNLSKEGIE TTVMTDAAIFAVMSRVNK
Rat ECAPFCQ--GHEMAVNLSEAGIE TTVMTDAAIFAVMSRVNK
Bovine ECAPFCQ--GHEMAVNLSKAGIE TTVMTDAAIFAVMSRVNK
Rabbit ECAPFCQ--GHEMAVNLSKAGIE TTVMTDAAIFAVMSRVNK
Slime mold ETAPSLE--GQKTAISLSKASID TTLITDSAVFAMMSRVNK
Baker's yeast EGFPNNTKNAHEFAKKLAQHNIE TLVVPDSAVFALMSRVGK
Fission yeast EGFPNNQKGSHAMAKRLAQAGID TTVISDATIFAIMSRVNK
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
Chain
1 – 351
Translation initiation factor eIF-2B subunit beta
Literature citations
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;
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A.; Rodriguez D.; Eymard-Pierre E.; Bouhour F.; Labauge P.; Meaney B.F.; Zeesman S.; Kaneski C.R.; Schiffmann R.; Boespflug-Tanguy O.;
Am. J. Hum. Genet. 72:1544-1550(2003)
Cited for: VARIANTS VWM PHE-171 AND GLY-213;
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 PHE-171; SER-196; VAL-200 AND GLY-213;
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Sambati L.; Agati R.; Bacci A.; Bianchi S.; Capellari S.;
Neurol. Sci. 34:1235-1238(2013)
Cited for: VARIANT VWM GLY-213;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.