Variant position: 386 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 DNILVELD-PDGCPWLVIADF GCCLADESIGLQLPFSSWYVD
Mouse DNILVEWD-SDGCPWLVISDF GCCLADQHVGLRLPFNSSSV
Rat DNILVEWD-SDGCPWLVISDF GCCLADERVGLQLPFNSSSV
Caenorhabditis elegans DNILLEYDFDDEIPQLVVADF GCALA--CDNWQVDYESDEV
Drosophila DNVLIELQ-DDAAPVLVLSDF GCCLADKVHGLRLPYVSHDV
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
402 – 402 Phosphoserine; by autocatalysis
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.
Ubiquitin is phosphorylated by PINK1 to activate parkin.
Koyano F.; Okatsu K.; Kosako H.; Tamura Y.; Go E.; Kimura M.; Kimura Y.; Tsuchiya H.; Yoshihara H.; Hirokawa T.; Endo T.; Fon E.A.; Trempe J.F.; Saeki Y.; Tanaka K.; Matsuda N.;
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS PARK6 PRO-168 AND ALA-386;
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;
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.