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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13639: Variant p.Pro596His

Elongation factor 2
Gene: EEF2
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Variant information Variant position: help 596 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 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: help 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: 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 SCA26; compromises the mechanics of translocation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 596 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 858 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Mouse                         VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Rat                           VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Bovine                        VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Rabbit                        VVSYRETVSEESNVLCLSKSPNKHNRLYMKARPFPDGLAED

Chicken                       VVSYRETVSEESNVMCLSKSPNKHNRLYMKARPFPDGLAED

Xenopus laevis                VVSYRETVSEESSQMCLSKSPNKHNRLFMKARPFPDGLAED

Zebrafish                     VVSYRETVSAESDQMCLSKSPNKHNRLYMKARPFPDGLAED

Caenorhabditis elegans        VVSYRETVQSESNQICLSKSPNKHNRLHCTAQPMPDGLADD

Drosophila                    VVSYRETVSEESDQMCLSKSPNKHNRLLMKALPMPDGLPED

Slime mold                    VVSFRESVSEESSIMCLSKSPNKHNRLFMKASPISMELQDL

Baker's yeast                 VVAYRETVESESSQTALSKSPNKHNRIYLKAEPIDEEVSLA

Fission yeast                 VVSYRESVSEPSSMTALSKSPNKHNRIFMTAEPMSEELSVA
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 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.