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UniProtKB/Swiss-Prot P49770: Variant p.Val85Glu

Translation initiation factor eIF-2B subunit beta
Gene: EIF2B2
Variant information

Variant position:  85
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Glutamate (E) at position 85 (V85E, p.Val85Glu).
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:  Change from medium size and hydrophobic (V) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269|PubMed:11704758, ECO:0000269|PubMed:12707859, ECO:0000269|PubMed:15776425, ECO:0000269|PubMed:21484434, ECO:0000269|PubMed:22285377, ECO:0000269|PubMed:22729508}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In VWM.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  85
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:   GRRMTAAQPSETTVGNMVRR  V LKIIREEYGRLHGRSDESDQ
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                         GRRMTAAQPSETTVGNMVRRVLKIIREEY-----GRLHGRSDE-------------SDQ

Mouse                         GRRMTAAQPSETTVGNMVRRVLKIIREEY-----GRLHGRS

Rat                           GRRMTAAHPPETTVGNMVRRVLKIIREEY-----GRLHGRS

Bovine                        GRRMTAAQPSETTVGNMVRRVLRIIREEY-----GRLHGRS

Rabbit                        GRRMMAAQPSETTVGNMVRRVLKIIREEY-----GRLHGRS

Slime mold                    GKKLMNAQPLEFCIGNIVRRVLFIIREEYLTFFRNKKNGLN

Baker's yeast                 GNSLEKAHPTAFSCGNVIRRILAVLRDEV------------

Fission yeast                 GSTLVKAQPTEFSCGNIIRRILRLIREEY-----QELLKTA

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.

TypePositionsDescription
Chain 1 – 351 Translation initiation factor eIF-2B subunit beta
Helix 76 – 95


Literature citations

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T.; Wang X.; Liu R.; Wortham N.C.; Onuki Y.; Kubota A.; Hida A.; Kowa H.; Fukuda Y.; Ishiura H.; Mitsui J.; Takahashi Y.; Aoki S.; Takizawa S.; Shimizu J.; Goto J.; Proud C.G.; Tsuji S.;
Neurogenetics 12:259-261(2011)
Cited for: VARIANT VWM GLU-85;

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.