Variant position: 923 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 VVEFTCHTAFFVSIVVVQWA DLIICKTRRNSVFQQGMKNKI
Mouse VVEFTCHTAFFVSIVVVQWA DLIICKTRRNSVFQQGMKNKI
Rat VVEFTCHTAFFVSIVVVQWA DLIICKTRRNSVFQQGMKNKI
Chicken VVEFTCHTAFFVSIVVVQWA DLIICKTRRNSVFQQGMKNKI
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
909 – 928 Helical;
933 – 933 Phosphoserine; by PKA
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
Anselm I.A.; Sweadner K.J.; Gollamudi S.; Ozelius L.J.; Darras B.T.;
Cited for: VARIANT DYT12 ASN-923;
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