Sequence information
Variant position: 388 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:
ILVELDPDGCPWLVIADFGC
C LADESIGLQLPFSSWYVDRG
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 ILVELD-PDGCPWLVIADFGCC LADESIGLQLPFSSWYVDRG
Mouse ILVEWD-SDGCPWLVISDFGCC LADQHVGLRLPFNSSSVER
Caenorhabditis elegans ILLEYDFDDEIPQLVVADFGCA LACDN--WQVDYESDEVSL
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
Chain
78 – 581
Serine/threonine-protein kinase PINK1, mitochondrial
Topological domain
111 – 581
Cytoplasmic
Domain
156 – 511
Protein kinase
Modified residue
402 – 402
Phosphoserine; by autocatalysis
Mutagenesis
384 – 384
D -> A. Abolishes MFN2 phosphorylation and interaction with PRKN; when associated with ALA-219 and ALA-362.
Literature citations
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
Li Y.; Tomiyama H.; Sato K.; Hatano Y.; Yoshino H.; Atsumi M.; Kitaguchi M.; Sasaki S.; Kawaguchi S.; Miyajima H.; Toda T.; Mizuno Y.; Hattori N.;
Neurology 64:1955-1957(2005)
Cited for: VARIANT PARK6 ARG-388;
Disclaimer:
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.