UniProtKB/Swiss-Prot Q99497: Variant p.Arg98Gln

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Arginine (R) to Glutamine (Q) at position 98 (R98Q, p.Arg98Gln). 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 large size and basic (R) to medium size and polar (Q) 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
Other resources: Links to websites of interest for the variant.

• Variant rs71653619 [ dbSNP | Ensembl ]

Sequence information

Variant position: 98 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: GAQNLSESAAVKEILKEQEN R KGLIAAICAGPTALLAHEIG 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
Active site	106 – 106	Nucleophile
Modified residue	106 – 106	Cysteine sulfinic acid (-SO2H); alternate
Lipidation	106 – 106	S-palmitoyl cysteine; alternate
Mutagenesis	106 – 106	C -> A. Abolishes enzymatic activity. Abolishes oxidation, association with mitochondria and protease activity. No effect on chaperone activity. Reduces binding to OTUD7B.
Mutagenesis	106 – 106	C -> A. Abolishes enzymatic activity. Abolishes oxidation, association with mitochondria and protease activity. No effect on chaperone activity. Reduces binding to OTUD7B. Removes the glycations and restores histone 3. Reduced localization in lipid rafts; when associated with A-46.
Mutagenesis	106 – 106	C -> D. Abolishes oxidation and association with mitochondria. No effect on chaperone activity.
Mutagenesis	106 – 106	C -> S. Loss of protein and nucleic acid deglycase activity. No effect on mitochondrial translocation. Reduced protease activity. No effect on protection against metal cytotoxicity. No effect on methylglyoxal-adducted glutathione or CoA.

Literature citations

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; The R98Q variation in DJ-1 represents a rare polymorphism.
Hedrich K.; Schaefer N.; Hering R.; Hagenah J.; Lanthaler A.J.; Schwinger E.; Kramer P.L.; Ozelius L.J.; Bressman S.B.; Abbruzzese G.; Martinelli P.; Kostic V.; Pramstaller P.P.; Vieregge P.; Riess O.; Klein C.;
Ann. Neurol. 55:145-146(2004)
Cited for: VARIANT GLN-98; Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
Clark L.N.; Afridi S.; Mejia-Santana H.; Harris J.; Louis E.D.; Cote L.J.; Andrews H.; Singleton A.; Wavrant De-Vrieze F.; Hardy J.; Mayeux R.; Fahn S.; Waters C.; Ford B.; Frucht S.; Ottman R.; Marder K.;
Mov. Disord. 19:796-800(2004)
Cited for: VARIANT PARK7 THR-104; VARIANTS GLN-98 AND SER-171; DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Hedrich K.; Djarmati A.; Schafer N.; Hering R.; Wellenbrock C.; Weiss P.H.; Hilker R.; Vieregge P.; Ozelius L.J.; Heutink P.; Bonifati V.; Schwinger E.; Lang A.E.; Noth J.; Bressman S.B.; Pramstaller P.P.; Riess O.; Klein C.;
Neurology 62:389-394(2004)
Cited for: VARIANT GLN-98;