Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 581 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 PTLPQNLEVTKSTGLLPGRG PGTSAPGEGQERAPGAPAFPL
Mouse PTLPQHLEKAKHLGLI-GKG PDVVLKGADGEQAPGTPTFPF
Caenorhabditis elegans ANSDAESSGNTHYGAGFNEV TNILAEIPPVSKV-AQKKFPL
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
78 – 581 Serine/threonine-protein kinase PINK1, mitochondrial
111 – 581 Cytoplasmic
156 – 511 Protein kinase
186 – 186 ATP
1 – 307 Missing. In isoform 2.
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V.; Rohe C.F.; Breedveld G.J.; Fabrizio E.; De Mari M.; Tassorelli C.; Tavella A.; Marconi R.; Nicholl D.J.; Chien H.F.; Fincati E.; Abbruzzese G.; Marini P.; De Gaetano A.; Horstink M.W.; Maat-Kievit J.A.; Sampaio C.; Antonini A.; Stocchi F.; Montagna P.; Toni V.; Guidi M.; Dalla Libera A.; Tinazzi M.; De Pandis F.; Fabbrini G.; Goldwurm S.; de Klein A.; Barbosa E.; Lopiano L.; Martignoni E.; Lamberti P.; Vanacore N.; Meco G.; Oostra B.A.;
Cited for: VARIANTS PARK6 PRO-168 AND LEU-196; VARIANTS LEU-115; THR-340; LYS-476 AND THR-521;
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.