Sequence information
Variant position: 793 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2527 The length of the canonical sequence.
Location on the sequence:
KALTISIGKGDSQIISLLLR
R LALDVANNSICLGGFCIGKV
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 KALTISIGKGDSQIISLLLRR LALDVANNSICLGGFCIGKV
Mouse KALTVSIQKGDSQVISLLLRK LALDLANNSICLGGFGIGKI
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
Chain
1 – 2527
Leucine-rich repeat serine/threonine-protein kinase 2
Region
1 – 969
Required for RAB29-mediated activation
Mutagenesis
789 – 789
L -> D. No effect on kinase activity and RAB29-mediated activation.
Mutagenesis
790 – 790
L -> D. No effect on kinase activity and RAB29-mediated activation.
Mutagenesis
791 – 791
L -> D. No effect on kinase activity and RAB29-mediated activation.
Literature citations
Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease.
Berg D.; Schweitzer K.; Leitner P.; Zimprich A.; Lichtner P.; Belcredi P.; Bruessel T.; Schulte C.; Maass S.; Naegele T.;
Brain 128:3000-3011(2005)
Cited for: VARIANTS PARK8 MET-793; ARG-930; CYS-1096 THR-1228; SER-2019 AND THR-2020; VARIANT LYS-551;
Lrrk2 pathogenic substitutions in Parkinson's disease.
Mata I.F.; Kachergus J.M.; Taylor J.P.; Lincoln S.; Aasly J.; Lynch T.; Hulihan M.M.; Cobb S.A.; Wu R.-M.; Lu C.-S.; Lahoz C.; Wszolek Z.K.; Farrer M.J.;
Neurogenetics 6:171-177(2005)
Cited for: VARIANTS PARK8 CYS-1441; GLY-1441; HIS-1441; GLN-1514; SER-1542; GLU-1598; CYS-1699; THR-1869; THR-2012; SER-2019; THR-2020 AND ARG-2385; VARIANTS PRO-119; LYS-551; VAL-723; MET-793; VAL-1122; ALA-1262; HIS-1398; PRO-1628; THR-1646; THR-1647; ASP-2081; LEU-2119; ILE-2261 AND THR-2397;
LRRK2 mutations in Parkinson disease.
Farrer M.; Stone J.; Mata I.F.; Lincoln S.; Kachergus J.; Hulihan M.; Strain K.J.; Maraganore D.M.;
Neurology 65:738-740(2005)
Cited for: VARIANTS PARK8 MET-793; THR-1869 AND SER-2019;
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.