Sequence information
Variant position: 522 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:
NLGGKLQLVCFDKTGTLTED
G LDVMGVVPLKGQAFLPLVPE
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 NLGGKLQLVCFDKTGTLTEDG LDVMGVVPLKGQAFLPLVPE
Mouse NLGGKLRLVCFDKTGTLTEDG LDVMGVVPLKGQVLLPLVPE
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
Chain
1 – 1180
Polyamine-transporting ATPase 13A2
Topological domain
485 – 930
Cytoplasmic
Active site
513 – 513
4-aspartylphosphate intermediate
Mutagenesis
513 – 513
D -> N. Loss of ATPase function, autophosphorylation and protection against mitochondrial stress.
Literature citations
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
Gruenewald A.; Arns B.; Seibler P.; Rakovic A.; Muenchau A.; Ramirez A.; Sue C.M.; Klein C.;
Neurobiol. Aging 33:1843.E1-1843.E7(2012)
Cited for: VARIANT KRS VAL-522; FUNCTION;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.