Variant position: 217 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 GTSAPGEGQERAPGAPAFPL AIKMMWNISAGSSSEA-ILNTM
Mouse DVVLKGADGEQAPGTPTFPF AIKMMWNISAGSSSEA-ILSK
Caenorhabditis elegans NILAEIPPVSKV-AQKKFPL AIKLMFNFEHDRDGDAHLLKS
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
228 – 228 Phosphoserine; by autocatalysis
1 – 307 Missing. In isoform 2.
219 – 219 K -> A. Abolishes MFN2 phosphorylation and interaction with PRKN; when associated with ALA-362 and ALA-384.
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Leutenegger A.-L.; Salih M.A.M.; Ibanez P.; Mukhtar M.M.; Lesage S.; Arabi A.; Lohmann E.; Duerr A.; Ahmed A.E.M.; Brice A.;
Arch. Neurol. 63:1257-1261(2006)
Cited for: VARIANT PARK6 ASP-217;
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