Variant position: 309 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 PGALVDYPDVL-PSRLHPEGL GHGRTLFLVMKNYPCTLRQYL
Mouse PGALADYPDML-PPHYYPEGL GHGRTLFLVMKNYPCTLRQY
Caenorhabditis elegans PDAIERYPDALHTARWYESIA SEPKTMYVVMRRYRQTLHEY
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
308 – 320 LGHGRTLFLVMKN -> MCGSQRPSPLSTS. In isoform 2.
The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.
Geisler S.; Holmstrom K.M.; Treis A.; Skujat D.; Weber S.S.; Fiesel F.C.; Kahle P.J.; Springer W.;
Cited for: FUNCTION IN MITOCHONDRIAL AUTOPHAGY; SUBCELLULAR LOCATION; INTERACTION WITH PARK2; CHARACTERIZATION OF VARIANTS PARK6 PRO-126; ASP-309 AND PRO-347;
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Valente E.M.; Abou-Sleiman P.M.; Caputo V.; Muqit M.M.K.; Harvey K.; Gispert S.; Ali Z.; Del Turco D.; Bentivoglio A.R.; Healy D.G.; Albanese A.; Nussbaum R.; Gonzalez-Maldonado R.; Deller T.; Salvi S.; Cortelli P.; Gilks W.P.; Latchman D.S.; Harvey R.J.; Dallapiccola B.; Auburger G.; Wood N.W.;
Cited for: VARIANT PARK6 ASP-309; CHARACTERIZATION OF VARIANT PARK6 ASP-309; FUNCTION; SUBCELLULAR LOCATION;
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
Silvestri L.; Caputo V.; Bellacchio E.; Atorino L.; Dallapiccola B.; Valente E.M.; Casari G.;
Hum. Mol. Genet. 14:3477-3492(2005)
Cited for: CHARACTERIZATION OF VARIANTS PARK6 PRO-168 AND ASP-309;
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