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:
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 ALVILAKGAEEMETVIPVDV M----------RRAGIKVTVAGLAGKDPVQC
Mouse ALVILAKGAEEMETVIPVDV M----------RRAGIKVTVA
Rat ALVILAKGAEEMETVIPVDI M----------RRAGIKVTVA
Bovine ALVILAKGAEEMETVIPVDV M----------RRAGIKVTVA
Chicken ALVILAKGAEEMETVIPTDV M----------RRAGIKVTVA
Zebrafish ALVILAKGAEEMETVIPVDV M----------RRAGIAVTVA
Slime mold ILLLLCKGFEVMEFTPFVDV MGWAREDDNNEDKADIQVVTC
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
46 – 46 S-palmitoyl cysteine
18 – 18 E -> A. Strongly decreases enzymatic activity.
18 – 18 E -> D. Strongly decreases enzymatic activity.
18 – 18 E -> N. Strongly decreases enzymatic activity.
18 – 18 E -> Q. Strongly decreases enzymatic activity.
46 – 46 C -> A. Reduced localization in lipid rafts; when associated with A-106.
46 – 46 C -> A. Reduces protein stability. No effect on oxidation.
46 – 46 C -> S. No effect on mitochondrial translocation neither on deglycase activity.
16 – 28
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;
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.