Variant position: 149 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 AKDKMMNGGHYTYSENRVEK DGLILTSRGPGTSFEFALAIV
Mouse AKDKMMNGSHYSYSESRVEK DGLILTSRGPGTSFEFALAIV
Rat AKDKMMNGSHYSYSESRVEK DGLILTSRGPGTSFEFALAIV
Bovine AKDKMMNGSHYSYSENRVEK DGLILTSRGPGTSFEFALKIV
Chicken AKDKMMNGAHYCYSESRVEK DGNILTSRGPGTSFEFGLAIV
Zebrafish AKDKMMAGDHYKYSEARVQK DGNVITSRGPGTSFEFALTIV
Slime mold RQQQLRDFGANVIADQSIVI DKNVITSYNPQTAPYVAFELL
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
148 – 148 N6-acetyllysine
130 – 130 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
130 – 130 K -> R. Partially compensates for loss of stability; when associated with P-166.
145 – 149
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;
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.