Variant position: 279 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 RKSKRGPKQLAPHPNIIRVL RAFTSSVPLLPGALVDYPDVL-
Mouse RRSRDGPKQLAPHPNIIRVF RAFTSSVPLLPGALADYPDML
Rat RRSRDGPKQLAPHPNIIRVF RAFTSSVPLLPGALADYPDML
Caenorhabditis elegans RPLP------AKHPNVVRIQ TAFIDSLKVLPDAIERYPDAL
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
1 – 307 Missing. In isoform 2.
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C.; Djarmati A.; Hedrich K.; Schaefer N.; Scaglione C.; Marchese R.; Kock N.; Schuele B.; Hiller A.; Lohnau T.; Winkler S.; Wiegers K.; Hering R.; Bauer P.; Riess O.; Abbruzzese G.; Martinelli P.; Pramstaller P.P.;
Eur. J. Hum. Genet. 13:1086-1093(2005)
Cited for: VARIANTS PARK6 HIS-279 AND GLN-534 INS; VARIANT LEU-115;
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