Table.
Sequence variants at the parkin and PINK1 loci in 87 MSA cases
| Nucleotide Change |
Amino Acid Change |
Location | Mutation Type |
Alleles in Cases |
Alleles in Controls† |
p value |
|---|---|---|---|---|---|---|
| parkin | ||||||
| c.258C>T | p.Arg42Cys | exon 2 | missense | 1 / 175 | 0 / 552 | 0.242 |
| c.272+25C | - | intron 2 | intronic | 34 / 142 | 115 / 437 | 0.747 |
| c.514-20T | - | intron 3 | intronic | 13 / 163 | 44 / 508 | 0.873 |
| c.601G>A | p.Ser167Asn | exon 4 | missense | 2 / 174 | 9 / 543 | 1 |
| c.835G>A | p.Arg234Gln | exon 6 | missense | 1 / 175 | 0 / 552 | 0.242 |
| c.1239G>C | p.Val380Leu | exon 10 | missense | 33 / 143 | 99 / 453 | 0.823 |
| c.1281G>A | p.Asp394Asn | exon 11 | missense | 12 / 162 | 14 / 538 | 0.016 |
| c.1444C>T | p.Pro437Leu | exon 12 | missense | 1 / 175 | 0 /552 | 0.242 |
| PINK1 | ||||||
| c.283C>T | p.Leu63Leu | exon 1 | silent | 36 / 130 | 88 / 464 | 0.101 |
| c.438A>T | p.Gln115Leu | exon 1 | missense | 12 / 154 | 32 / 520 | 0.467 |
| c.482-7A | - | intron 1 | intronic | 21 / 147 | 69 / 483 | 1 |
| c.661C>A | p.Gly189Gly | exon 2 | silent | 1 / 167 | 0 / 552 | 0.233 |
| c. 1054-5G | - | intron 4 | intronic | 20 / 156 | 67 / 485 | 0.894 |
| c.1105C>T | p.Arg337Arg | exon 5 | silent | 1 / 175 | 0 / 552 | 0.242 |
| c.1112G>A | p.Ala340Thr | exon 5 | missense | 9 / 167 | 18 / 534 | 0.257 |
| c.1189C>T | p.Ser365Ser | exon 5 | silent | 1 / 175 | 0 / 552 | 0.242 |
| c.1656A>C | p.Asn521Thr | exon 8 | missense | 53 / 121 | 152 / 400 | 0.499 |
mutational screening results of normal controls have been published elsewhere (see Brooks et al., 2009).