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:
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 VVSYRETVSEESNVLCLSKS PNKHNRLYMKARPFPDGLAED
Mouse VVSYRETVSEESNVLCLSKS PNKHNRLYMKARPFPDGLAED
Rat VVSYRETVSEESNVLCLSKS PNKHNRLYMKARPFPDGLAED
Bovine VVSYRETVSEESNVLCLSKS PNKHNRLYMKARPFPDGLAED
Chicken VVSYRETVSEESNVMCLSKS PNKHNRLYMKARPFPDGLAED
Caenorhabditis elegans VVSYRETVQSESNQICLSKS PNKHNRLHCTAQPMPDGLADD
Drosophila VVSYRETVSEESDQMCLSKS PNKHNRLLMKALPMPDGLPED
Slime mold VVSFRESVSEESSIMCLSKS PNKHNRLFMKASPISMELQDL
Baker's yeast VVAYRETVESESSQTALSKS PNKHNRIYLKAEPIDEEVSLA
Fission yeast VVSYRESVSEPSSMTALSKS PNKHNRIFMTAEPMSEELSVA
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
2 – 858 Elongation factor 2
595 – 595 Phosphoserine; by CDK2
595 – 595 S -> A. Strongly reduced phosphorylation at Thr-57.
599 – 599 H -> P. Strongly reduced phosphorylation at Thr-57.
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;
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.