UniProtKB/Swiss-Prot Q99497: Variant p.Met26Ile

Protein DJ-1
Gene: PARK7
Chromosomal location: 1p36.23
Variant information

Variant position:  26
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Methionine (M) to Isoleucine (I) at position 26 (M26I, p.Met26Ile).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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; does not affect protein stability and degradation; does not interfere with homodimerization.
Any additional useful information about the variant.



Sequence information

Variant position:  26
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:   ALVILAKGAEEMETVIPVDV  M RRAGIKVTVAGLAGKDPVQC
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                         ALVILAKGAEEMETVIPVDVM----------RRAGIKVTVAGLAGKDPVQC

Mouse                         ALVILAKGAEEMETVIPVDVM----------RRAGIKVTVA

Rat                           ALVILAKGAEEMETVIPVDIM----------RRAGIKVTVA

Bovine                        ALVILAKGAEEMETVIPVDVM----------RRAGIKVTVA

Chicken                       ALVILAKGAEEMETVIPTDVM----------RRAGIKVTVA

Zebrafish                     ALVILAKGAEEMETVIPVDVM----------RRAGIAVTVA

Slime mold                    ILLLLCKGFEVMEFTPFVDVMGWAREDDNNEDKADIQVVTC

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.

TypePositionsDescription
Lipidation 46 – 46 S-palmitoyl cysteine
Mutagenesis 46 – 46 C -> A. Reduced localization in lipid rafts; when associated with A-106.
Mutagenesis 46 – 46 C -> A. Reduces protein stability. No effect on oxidation.
Mutagenesis 46 – 46 C -> S. No effect on mitochondrial translocation.
Helix 16 – 28


Literature citations

A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.
Moore D.J.; Zhang L.; Dawson T.M.; Dawson V.L.;
J. Neurochem. 87:1558-1567(2003)
Cited for: DEGRADATION BY THE PROTEASOME; CHARACTERIZATION OF VARIANTS PARK7 ILE-26 AND PRO-166;

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.