Research Article
PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1
Table 2
Allelic frequencies of sequence variations identified in LRPPRC.
| | Gene position | DNA variation | NCBI no. | AF PD | AF DB | Database* |
| | 5′UTR | c.-45G>A | rs11124961 | 7.6% | 1.4% | pilot.1.CEU | | Exon 2 | c.246G>A (p.Q82Q) | rs6741066 | 66.7% | 65.5% | HapMap-CEU | | Intron 3 | IVS3-132C>G | rs6721144 | 6.8% | 13.3% | HapMap-CEU | | Intron 6 | IVS6-70T>C | rs17031786 | 14.4% | 13.8% | HapMap-CEU | | Exon 9 | c.1068A>G (p.Q356Q) | rs4953042 | 16.3% | 19.2% | HapMap-CEU | | Intron 9 | IVS9+30A>G | rs7593842 | 15.2% | 12.7% | HapMap-CEU | | Intron 13 | IVS13+28T>C | rs62135104 | 9.5% | 1.5% | pilot.1.CEU | | Intron 15 | IVS15+11C>G | rs58811869 | 7.8% | 13.9% | pilot.1.CEU | | Intron 17 | IVS17-28T>G | rs72877186 | 15.2% | 15.3% | pilot.1.CEU | | Intron 20 | IVS20-40A>C | rs7594526 | 42.4% | 47.5% | HapMap-CEU | | Intron 22 | IVS22+27T>G | rs28394191 | 43.5% | 40.3% | pilot.1.CEU | | Exon 23 | c.2481A>G (p.P827P) | rs115993634 | 1.1% | none | none | | Intron 27 | IVS27+26C>T | rs4952694 | 51.1% | 53.0% | AoD_Caucasian | | Intron 27 | IVS27-38A>G | none | 2.2% | none | none | | Intron 28 | IVS28+21C>A | rs7568481 | 43.5% | 47.4% | HapMap-CEU | | Intron 30 | IVS30+97T>C | rs17424482 | 8.7% | 3.7% | HapMap-CEU | | Intron 32 | IVS32-3C>T | rs35113761 | 6.5% | none | none | | Intron 35 | IVS35+14C>T | rs3795859 | 15.2% | 15.0% | HapMap-CEU | | Intron 35 | IVS35+15C>T | rs76850904 | 8.7% | none | none | | Intron 36 | IVS36-42G>C | none | 1.1% | none | none | | Exon 37 | c.4023T>C (p.Y1341Y) | none | 1.1% | none | none | | Intron 37 | IVS37+37G>A | rs2955280 | 51.1% | 53.4% | HapMap-CEU | | 3′UTR |
*399G>A | none | 2.3% | none | none | | 3′UTR |
*556A>T | rs1136998 | 7.6% | 8.3% | HapMap-CEU |
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Note: AF: allelic frequency, DB: database, PD: Parkinson’s disease and *Only studies based on European populations included.
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