Variant position: 353 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1196 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 PWKTQSEADYKRHVLFCGTE VIQAKAACSGTVRAVVLQTGF
Mouse PWKMQSEADPRRHVLFCGTE VIQAKAAGSGAVRAVVLQTGF
Chicken PWKMHCAEDYKKHVLFCGTE VIQTKGDDRGVVKAVVLQTGF
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 – 1196 Probable cation-transporting ATPase 13A4
245 – 400 Cytoplasmic
1 – 984 Missing. In isoform 4.
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Kwasnicka-Crawford D.A.; Carson A.R.; Roberts W.; Summers A.M.; Rehnstrom K.; Jarvela I.; Scherer S.W.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; INDUCTION; CHROMOSOMAL REARRANGEMENT; VARIANTS MET-181; ALA-353 AND ASP-646;
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