Variant position: 2368 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2677 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 YKAQKTMIQKDLDKEFDRKG PAEVDTVDAFQGRQKDCVIVT
Mouse YKAQKTMIQKDLEKEFDKKG PAEVDTVDAFQGRQKDCIIVT
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
1 – 2677 Probable helicase senataxin
2367 – 2399 Missing. In isoform 3.
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Chen Y.-Z.; Hashemi S.H.; Anderson S.K.; Huang Y.; Moreira M.-C.; Lynch D.R.; Glass I.A.; Chance P.F.; Bennett C.L.;
Neurobiol. Dis. 23:97-108(2006)
Cited for: VARIANT SCAN2 ARG-2368; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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