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UniProtKB/Swiss-Prot P13639: Variant p.Pro596His

Elongation factor 2
Gene: EEF2
Variant information

Variant position:  596
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 Proline (P) to Histidine (H) at position 596 (P596H, p.Pro596His).
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 (P) to medium size and polar (H)
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:  Spinocerebellar ataxia 26 (SCA26) [MIM:609306]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. {ECO:0000269|PubMed:23001565}. 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 SCA26; compromises the mechanics of translocation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  596
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  858
The length of the canonical sequence.

Location on the sequence:   VVSYRETVSEESNVLCLSKS  P NKHNRLYMKARPFPDGLAED
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                         VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Mouse                         VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Rat                           VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Bovine                        VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Chicken                       VVSYRETVSEESNVMCLSKSPNKHNRLYMKARPFPDGLAED

Caenorhabditis elegans        VVSYRETVQSESNQICLSKSPNKHNRLHCTAQPMPDGLADD

Drosophila                    VVSYRETVSEESDQMCLSKSPNKHNRLLMKALPMPDGLPED

Slime mold                    VVSFRESVSEESSIMCLSKSPNKHNRLFMKASPISMELQDL

Baker's yeast                 VVAYRETVESESSQTALSKSPNKHNRIYLKAEPIDEEVSLA

Fission yeast                 VVSYRESVSEPSSMTALSKSPNKHNRIFMTAEPMSEELSVA

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 2 – 858 Elongation factor 2
Modified residue 595 – 595 Phosphoserine; by CDK2
Mutagenesis 595 – 595 S -> A. Strongly reduced phosphorylation at Thr-57.
Mutagenesis 599 – 599 H -> P. Strongly reduced phosphorylation at Thr-57.


Literature citations

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Hekman K.E.; Yu G.Y.; Brown C.D.; Zhu H.; Du X.; Gervin K.; Undlien D.E.; Peterson A.; Stevanin G.; Clark H.B.; Pulst S.M.; Bird T.D.; White K.P.; Gomez C.M.;
Hum. Mol. Genet. 21:5472-5483(2012)
Cited for: VARIANT SCA26 HIS-596; CHARACTERIZATION OF VARIANT SCA26 HIS-596;

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.