UniProtKB/Swiss-Prot Q99497: Variant p.Glu163Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 163 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: US 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: From Glutamate (E) to Lysine (K) at position 163 (E163K, p.Glu163Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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: In PARK7; uncertain significance; no effect on detoxification activity on methylglyocal-adducted CoA. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs74315354 [ dbSNP | Ensembl ]

Sequence information

Variant position: 163 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 189 The length of the canonical sequence.
Location on the sequence: ENRVEKDGLILTSRGPGTSF E FALAIVEALNGKEVAAQVKA 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.
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
Modified residue	148 – 148	N6-acetyllysine
Modified residue	182 – 182	N6-succinyllysine
Mutagenesis	179 – 179	A -> T. No effect on detoxification activity on methylglyocal-adducted CoA.
Helix	161 – 173

Literature citations

Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro.
Matsuda N.; Kimura M.; Queliconi B.B.; Kojima W.; Mishima M.; Takagi K.; Koyano F.; Yamano K.; Mizushima T.; Ito Y.; Tanaka K.;
Sci. Rep. 7:12816-12816(2017)
Cited for: FUNCTION; MUTAGENESIS OF LEU-10; GLU-18; CYS-106 AND ALA-179; CHARACTERIZATION OF VARIANTS PARK7 ILE-26; ASP-64; THR-104; ALA-149; LYS-163 AND PRO-166; CHARACTERIZATION OF VARIANT SER-39; DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
Annesi G.; Savettieri G.; Pugliese P.; D'Amelio M.; Tarantino P.; Ragonese P.; La Bella V.; Piccoli T.; Civitelli D.; Annesi F.; Fierro B.; Piccoli F.; Arabia G.; Caracciolo M.; Ciro Candiano I.C.; Quattrone A.;
Ann. Neurol. 58:803-807(2005)
Cited for: VARIANT PARK7 LYS-163;