UniProtKB/SwissProt variant VAR

Variant information

Variant position:

115

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Glutamine (Q) to Leucine (L) at position 115 (Q115L, p.Gln115Leu).

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:

Change from medium size and polar (Q) to medium size and hydrophobic (L)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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

Other resources:

Links to websites of interest for the variant.

Variant rs148871409 [ dbSNP | Ensembl ]

Sequence information

Variant position:

115

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:

PCGRAVFLAFGLGLGLIEEK Q AESRRAVSACQEIQAIFTQK

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                         PCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQK

Mouse                         PCGRAVFLAFGLGLGLIEEKQAEGRRAASACQEIQAIFTQK

Rat                           PCGRAVFLAFGLGLGLIEEKQAESRRAASACQEIQAIFTQK

Caenorhabditis elegans        -----------------QPIRKELPRNVDLVERIRQIFG-N

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
Region	111 – 117	Required for outer membrane localization
Alternative sequence	1 – 307	Missing. In isoform 2.
Mutagenesis	112 – 117	EEKQAE -> AAKQAA. In 3EA; impaired ability to localize to the outer mitochondrial membrane.

Literature citations

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;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BXM7: Variant p.Gln115Leu