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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99497: Variant p.Asp149Ala

Parkinson disease protein 7
Gene: PARK7
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Variant information Variant position: help 149 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 Aspartate (D) to Alanine (A) at position 149 (D149A, p.Asp149Ala). 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 medium size and acidic (D) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In PARK7; loss of protection against metal cytotoxicity; decreased detoxification activity on methylglyocal-adducted CoA. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 149 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 189 The length of the canonical sequence.
Location on the sequence: help AKDKMMNGGHYTYSENRVEK D GLILTSRGPGTSFEFALAIV 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: 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
Site 149 – 150 Cleavage; by CASP6
Modified residue 148 – 148 N6-acetyllysine
Cross 130 – 130 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Mutagenesis 130 – 130 K -> R. Partially compensates for loss of stability; when associated with P-166.
Beta strand 145 – 149



Literature citations
Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.
Bjorkblom B.; Adilbayeva A.; Maple-Grodem J.; Piston D.; Okvist M.; Xu X.M.; Brede C.; Larsen J.P.; Moller S.G.;
J. Biol. Chem. 288:22809-22820(2013)
Cited for: FUNCTION; COPPER-BINDING; CHARACTERIZATION OF VARIANTS PARK7 THR-104 AND ALA-149; MUTAGENESIS OF CYS-106; 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; The role of pathogenic DJ-1 mutations in Parkinson's disease.
Abou-Sleiman P.M.; Healy D.G.; Quinn N.; Lees A.J.; Wood N.W.;
Ann. Neurol. 54:283-286(2003)
Cited for: VARIANTS PARK7 ILE-26 AND ALA-149; VARIANT GLN-98;
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.