Variant position: 2385 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:
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 IAKQNSPVVEVWDKKTEKLC GLIDCVHFLREVMVKENKESK
Mouse IAKKNSPVVEVWDKKTEKLC ELIDCVHFLKEVMVKLNKESK
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
1 – 2527 Leucine-rich repeat serine/threonine-protein kinase 2
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.;
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;
The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.
Tan E.K.; Zhao Y.; Skipper L.; Tan M.G.; Di Fonzo A.; Sun L.; Fook-Chong S.; Tang S.; Chua E.; Yuen Y.; Tan L.; Pavanni R.; Wong M.C.; Kolatkar P.; Lu C.S.; Bonifati V.; Liu J.J.;
Hum. Genet. 120:857-863(2007)
Cited for: CHARACTERIZATION OF VARIANT ARG-2385; ASSOCIATION WITH PARKINSON DISEASE;
Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease.
Bardien S.; Lesage S.; Brice A.; Carr J.;
Parkinsonism Relat. Disord. 17:501-508(2011)
Cited for: ASSOCIATION OF VARIANTS PRO-1628 AND ARG-2385 WITH PARKINSON DISEASE;
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.