Variant position: 1069 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1180 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 VVFSLSSFQYLILAAAVSKG APFRRPLYTNVPFLVALALLS
Mouse VVFSLSGFQYLILAAAVSKG APFRQPLYTNVPFLVALALLG
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 – 1180 Polyamine-transporting ATPase 13A2
1049 – 1069 Helical
1067 – 1067 K -> A. Reduced spermine-induced ATPase activity.
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.
Suleiman J.; Hamwi N.; El-Hattab A.W.;
Brain Dev. 40:824-826(2018)
Cited for: VARIANTS KRS PHE-441 AND THR-1069;
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