Table II.
Variants identified in leucine-rich repeat kinase 2 (LRRK2) and parkin RBR E3 ubiquitin protein ligase (PRKN) in Parkinson’s disease (PD) patients
| Nucleotide change | Location | Amino acid change | Type of change | Allele frequency (%) | Status |
|---|---|---|---|---|---|
| Variants identified in LRRK2 | |||||
| c. 4581 T>C | Exon-32 | p.Y1527Y | Synonymous | 0.34 | Reported in ExAC |
| c. 4624 C>T | Exon-32 | p.P1542S | Non-synonymous | 1.66 | rs33958906 |
| IVS33-28 T>C | Intron-33 | NA | NA | 27.69 | rs1896252 |
| c. 4845 G>A | Exon-34 | p.V1615V | Synonymous | 0.34 | Reported in ExAC |
| c. 4872 C>A | Exon-34 | p.G1624G | Synonymous | 34.61 | Polymorphism |
| c. 4911 G>A | Exon-34 | p.K1637K | Synonymous | 30.67 | Polymorphism |
| c. 4939 T>A | Exon-34 | p.S1647T | Non-synonymous | 29.54 | rs11564148 |
| IVS36+20 C>T | Intron-36 | NA | NA | 37.5 | rs7137665 |
| IVS36+30 del A | Intron-36 | NA | NA | 37.5 | NOVEL |
| c. 5457 T>C | Exon-37 | p.G1819G | Synonymous | 67.37 | Polymorphism |
| IVS39+32G>A | Intron-38 | NA | NA | 33.34 | rs17484342 |
| IVS39+4A>T | Intron-39 | NA | NA | 54.78 | NOVEL |
| Variants identified in PRKN | |||||
| c. 101A>G | Exon-2 | p.Q34R | Non-synonymous | 1.72 | rs148851677 |
| c. 125G>A | Exon-2 | p.R42H | Non-synonymous | 0.34 | rs368134308 |
| IVS2+25T>C | Intron-2 | NA | NA | 17.93 | rs2075923 |
| IVS2+35G>A | Intron-2 | NA | NA | 0.68 | rs79752410 |
| c. 245C>A | Exon-3 | p.A82E | Non-synonymous | 0.34 | rs55774500 |
| IVS3-9G>C | Intron-3 | NA | NA | 4.13 | Polymorphism |
| IVS3-15T>A | Intron-3 | NA | NA | 5.17 | Polymorphism |
| IVS3-35_delA | Intron-3 | NA | NA | 25.51 | Polymorphism |
| c. 500G>C | Exon-4 | p.S167T | Non-synonymous | 4.13 | Polymorphism |
| c. 500G>A | Exon-4 | p.S167N | Non-synonymous | 11.03 | rs1801474 |
| c. 707T>A | Exon-6 | p.I236N | Non-synonymous | 2.75 | Polymorphism |
| c. 816C>T | Exon-7 | p.L272L | Synonymous | 1.72 | rs143902760 |
| c. 822T>G | Exon-7 | p.D274E | Non-synonymous | 10.68 | Polymorphism |
| c. 838G>A | Exon-7 | p.D280N | Non-synonymous | 15.51 | Polymorphism |
| IVS7-35G>A | Intron-7 | NA | NA | 7.58 | rs3765474 |
| IVS8-16_20 | delCTGCINTRON-8 | NA | NA | 1.03 | Polymorphism |
| c. 1000C>T | Exon-9 | p.R334C | Non-synonymous | 1.37 | rs199657839 |
| c. 1033C>G | Exon-9 | p.P345A | Non-synonymous | 15.51 | Polymorphism |
| c. 1076G>A | Exon-9 | p.G359D | Non-synonymous | 0.68 | rs201300874 |
| c. 1138G>C | Exon-10 | p.V380L | Non-synonymous | 22.06 | rs1801582 |