Variant position: 369 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 GVDHLVQQGIAHRDLKSDNI LVELD-PDGCPWLVIADFGCCL
Mouse GVDHLVQQGIAHRDLKSDNI LVEWD-SDGCPWLVISDFGCC
Rat GVDHLVQQGIAHRDLKSDNI LVEWD-SDGCPWLVISDFGCC
Caenorhabditis elegans ACTYLHKHKVAQRDMKSDNI LLEYDFDDEIPQLVVADFGCA
Drosophila AVNHLSRHGVAHRDLKSDNV LIELQ-DDAAPVLVLSDFGCC
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
362 – 362 Proton acceptor
362 – 362 D -> A. Abolishes MFN2 phosphorylation and interaction with PRKN; when associated with A-219 and A-384. Loss of enzyme activity and impaired localization of PRKN to mitochondria; when associated with M-219 and A-384.
384 – 384 D -> A. Abolishes MFN2 phosphorylation and interaction with PRKN; when associated with A-219 and A-362. Loss of enzyme activity and impaired localization of PRKN to mitochondria; when associated with M-219 and A-362.
384 – 384 D -> N. Loss of activity. Abolishes Drp1 phosphorylation. No effect on localization to mitochondria.
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Ibanez P.; Lesage S.; Lohmann E.; Thobois S.; De Michele G.; Borg M.; Agid Y.; Durr A.; Brice A.;
Cited for: VARIANTS PARK6 GLY-125; LYS-240; PRO-369; ALA-386 AND VAL-409;
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