Table 2. Novel sequence variants detected in this study.
| Variant | Prediction tools | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Gene/PCR primer/position | cDNA | Protein | MutationTaster | PolyPhen-2 | SIFT | PROVEAN | Het/Hom | FM/SP | *Frequency |
| PARKIN/Exon4 | c.532C>T | Q178X | disease causing | n.a. | n.a. | n.a. | 0/1 | 0/1 | n.a. |
| PARKIN/Exon5 | c.583G>C | E195Q | polymorphism | benign | tolerated | Neutral | 1/0 | 0/1 | 0/96 |
| PARKIN/Exon6 | c.718A>G | T240A | polymorphism | benign | tolerated | Neutral | 2/0 | 2/0 | 0/96 |
| PINK1/Exon2 | c.565G>A | G189R | polymorphism | benign | tolerated | Neutral | 1/0 | 0/1 | 2/96 |
| PINK1/Exon6 | c.1225G>A | G409R | disease causing | probably damaging | deleterious | damaging | 0/2 | 2/0 | 0/1000+ |
| PARKIN/Exon12/3'UTR | c*61C>T | _ | _ | _ | _ | _ | 1/0 | 0/1 | n.a. |
| PINK1/Exon3/intron3 | c.776+22G>A | _ | _ | _ | _ | _ | 3/0 | 0/3 | n.a. |
| PINK1/Exon5 | c.966C>T | P322P | _ | _ | _ | _ | 12/0 | 4/8 | n.a. |
| PINK1/Exon6 | c.1237C>T | L413L | _ | _ | _ | _ | 21/0 | 6/15 | n.a. |
| LRRK2/Exon2/intron1 | c.152-14C>T | _ | _ | _ | _ | _ | 5/0 | 0/5 | n.a. |
| LRRK2/Exon11/intron11 | c.1288+164T>G | _ | _ | _ | _ | _ | 1/0 | 0/1 | n.a. |
| LRRK2/Exon44/intron43 | c.6381-19T>G | _ | _ | _ | _ | _ | 1/0 | 1/0 | n.a. |
| LRRK2/Exon47/intron46 | c.6844-18_6844-17insT | _ | _ | _ | _ | _ | 0/3 | 1/2 | n.a. |
| GIGYF2/Exon6/intron5 | c.42-57T>A | _ | _ | _ | _ | _ | 4/1 | 0/5 | n.a. |
| GIGYF2/Exon30 | c.3753A>G | Q1251Q | _ | _ | _ | _ | 1/0 | 0/1 | n.a. |
| FBXO7/Exon3/intron3 | c.645+78A>G | _ | _ | _ | _ | _ | 1/0 | 0/1 | n.a. |
| FBXO7/Exon8/intron7 | c.1145-112_1145-111insTTC | _ | _ | _ | _ | _ | 0/13 | 2/11 | n.a. |
| PARK7/DJ1/Exon4/intron4 | c.252+57G>A het | _ _ | __ | __ | __ | __ | 3/0 | 2/1 | n.a. |
Key: Heterozygous, Het; Homozygous, Homo; Familial, FM; Sporadic, SP; Not available, n.a.
* Frequency: No. of control carriers/ total No. of controls.