Variant position: 504 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 AQSRLRRQGIFCIHPLRINL GGKLQLVCFDKTGTLTEDGLD
Mouse AQSRLRTQGIFCIHPLRINL GGKLRLVCFDKTGTLTEDGLD
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 Cation-transporting ATPase 13A2
481 – 932 Cytoplasmic
513 – 513 4-aspartylphosphate intermediate
513 – 513 D -> N. Loss of ATPase function.
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A.; Chien H.F.; Socal M.; Giraudo S.; Tassorelli C.; Iliceto G.; Fabbrini G.; Marconi R.; Fincati E.; Abbruzzese G.; Marini P.; Squitieri F.; Horstink M.W.; Montagna P.; Libera A.D.; Stocchi F.; Goldwurm S.; Ferreira J.J.; Meco G.; Martignoni E.; Lopiano L.; Jardim L.B.; Oostra B.A.; Barbosa E.R.; Bonifati V.;
Cited for: VARIANT KRS ARG-504; VARIANTS MET-12 AND ARG-533;
Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
Podhajska A.; Musso A.; Trancikova A.; Stafa K.; Moser R.; Sonnay S.; Glauser L.; Moore D.J.;
PLoS ONE 7:E39942-E39942(2012)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS KRS MET-12; LEU-182; ARG-504; ARG-533; THR-746 AND ARG-877; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY;
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.