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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49770: Variant p.Glu213Gly

Translation initiation factor eIF2B subunit beta
Gene: EIF2B2
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Variant information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glutamate (E) to Glycine (G) at position 213 (E213G, p.Glu213Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In VWM2; with and without ovarian failure. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 351 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ECAPFCQ--GHEMAVNLSKAGIETTVMTDAAIFAVMSRVNKVI

Mouse                         ECAPFCQ--GHEMAVNLSKEGIETTVMTDAAIFAVMSRVNK

Rat                           ECAPFCQ--GHEMAVNLSEAGIETTVMTDAAIFAVMSRVNK

Bovine                        ECAPFCQ--GHEMAVNLSKAGIETTVMTDAAIFAVMSRVNK

Rabbit                        ECAPFCQ--GHEMAVNLSKAGIETTVMTDAAIFAVMSRVNK

Slime mold                    ETAPSLE--GQKTAISLSKASIDTTLITDSAVFAMMSRVNK

Baker's yeast                 EGFPNNTKNAHEFAKKLAQHNIETLVVPDSAVFALMSRVGK

Fission yeast                 EGFPNNQKGSHAMAKRLAQAGIDTTVISDATIFAIMSRVNK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 351 Translation initiation factor eIF2B subunit beta
Beta strand 213 – 218



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 VWM2 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 VWM2 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 VWM2 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 VWM2 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.