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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z333: Variant p.Leu389Ser

Probable helicase senataxin
Gene: SETX
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Variant information Variant position: help 389 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 Leucine (L) to Serine (S) at position 389 (L389S, p.Leu389Ser). 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 (L) to small size and polar (S) 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 ALS4; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation and ubiquitination; does not inhibit homodimerization; unlike the wild-type protein the mutant induces interaction with C14orf178. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 389 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2677 The length of the canonical sequence.
Location on the sequence: help GWRTAICPDYCPNMYEEMET L ASVLQSDIGQDMRVHNSTFL 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                         GWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFL

Mouse                         GWRSAICPDYCPNMYEEMETLANVLQSDIGQDMRVHNSTFL

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 – 2677 Probable helicase senataxin



Literature citations
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
Richard P.; Feng S.; Manley J.L.;
Genes Dev. 27:2227-2232(2013)
Cited for: FUNCTION; INTERACTION WITH EXOSC9 AND UBE2I; SUMOYLATION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SCAN2 CYS-305 AND LEU-413; CHARACTERIZATION OF VARIANTS ALS4 ILE-3 AND SER-389; MUTAGENESIS OF GLU-65; DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen Y.-Z.; Bennett C.L.; Huynh H.M.; Blair I.P.; Puls I.; Irobi J.; Dierick I.; Abel A.; Kennerson M.L.; Rabin B.A.; Nicholson G.A.; Auer-Grumbach M.; Wagner K.; De Jonghe P.; Griffin J.W.; Fischbeck K.H.; Timmerman V.; Cornblath D.R.; Chance P.F.;
Am. J. Hum. Genet. 74:1128-1135(2004)
Cited for: VARIANTS ALS4 SER-389 AND HIS-2136; TISSUE SPECIFICITY; Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
Bennett C.L.; Chen Y.; Vignali M.; Lo R.S.; Mason A.G.; Unal A.; Huq Saifee N.P.; Fields S.; La Spada A.R.;
PLoS ONE 8:E78837-E78837(2013)
Cited for: VARIANT SER-389; CHARACTERIZATION OF VARIANT ALS4 SER-389; SUBUNIT; LACK OF INTERACTION WITH C14ORF178; UBIQUITINATION; SUMOYLATION;
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.