Variant position: 758 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1013 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 MILLDDNFASIVTGVEEGRL IFDNLKKSIAYTLTSNIPEIT
Mouse MILLDDNFASIVTGVEEGRL IFDNLKKSIAYTLTSNIPEIT
Rat MILLDDNFASIVTGVEEGRL IFDNLKKSIAYTLTSNIPEIT
Chicken MILLDDNFASIVTGVEEGRL IFDNLKKSIAYTLTSNIPEIT
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 – 1013 Sodium/potassium-transporting ATPase subunit alpha-3
329 – 762 Cytoplasmic
Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
de Carvalho Aguiar P.; Sweadner K.J.; Penniston J.T.; Zaremba J.; Liu L.; Caton M.; Linazasoro G.; Borg M.; Tijssen M.A.J.; Bressman S.B.; Dobyns W.B.; Brashear A.; Ozelius L.J.;
Cited for: VARIANTS DYT12 THR-274; LYS-277; MET-613; SER-758; LEU-780 AND TYR-801;
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