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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BXM7: Variant p.Ala168Pro

Serine/threonine-protein kinase PINK1, mitochondrial
Gene: PINK1
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Variant information Variant position: help 168 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Alanine (A) to Proline (P) at position 168 (A168P, p.Ala168Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In PARK6; no effect on autophosphorylation; localizes to the mitochondria and immunogold experiments reveal that both wild-type and mutant proteins face the mitochondrial intermembrane space. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 168 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 581 The length of the canonical sequence.
Location on the sequence: help LQGFRLEEYLIGQSIGKGCS A AVYEATMPTLPQNLEVTKST 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LQGFRLEEYLIGQSIGKGCSAAVYEATM--------------------PTLP------------------------------------------------------------QNLEVTKST

Mouse                         WQGFRLEDYLIGQAIGKGCNAAVYEATM-------------

Rat                           WQGFRLEDYLIGQAIGKGCNAAVYEATM-------------

Caenorhabditis elegans        WPN-RIDSYEFGEFLGQGCNAAVYSARL-------------

Drosophila                    ---FTIDDLEIGPPIAKGCAAVVYAADFKKDVASDGASLHT
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 78 – 581 Serine/threonine-protein kinase PINK1, mitochondrial
Topological domain 111 – 581 Cytoplasmic
Domain 156 – 511 Protein kinase
Binding site 162 – 170
Binding site 186 – 186
Alternative sequence 1 – 307 Missing. In isoform 2.



Literature citations
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.;
Nature 510:162-166(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS PARK6 PRO-168 AND ALA-386; PINK1 mutations are associated with sporadic early-onset parkinsonism.
Valente E.M.; Salvi S.; Ialongo T.; Marongiu R.; Elia A.E.; Caputo V.; Romito L.; Albanese A.; Dallapiccola B.; Bentivoglio A.R.;
Ann. Neurol. 56:336-341(2004)
Cited for: VARIANTS PARK6 PHE-92; PRO-168 AND HIS-464; VARIANTS LEU-296; THR-340; THR-442; LYS-476; THR-521 AND ASN-525; 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; Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V.; Rohe C.F.; Breedveld G.J.; Fabrizio E.; De Mari M.; Tassorelli C.; Tavella A.; Marconi R.; Nicholl D.J.; Chien H.F.; Fincati E.; Abbruzzese G.; Marini P.; De Gaetano A.; Horstink M.W.; Maat-Kievit J.A.; Sampaio C.; Antonini A.; Stocchi F.; Montagna P.; Toni V.; Guidi M.; Dalla Libera A.; Tinazzi M.; De Pandis F.; Fabbrini G.; Goldwurm S.; de Klein A.; Barbosa E.; Lopiano L.; Martignoni E.; Lamberti P.; Vanacore N.; Meco G.; Oostra B.A.;
Neurology 65:87-95(2005)
Cited for: VARIANTS PARK6 PRO-168 AND LEU-196; VARIANTS LEU-115; THR-340; LYS-476 AND THR-521;
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.