Table 1 List of Prioritized Variants.
From: Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease
Proband ID/(Gender) | Form of PD/Consanguinity | Identified Variant | Genotype | ||||
|---|---|---|---|---|---|---|---|
Gene | Base Change | Amino Acid Change | Proband | Other Family Members | Criteria/prioritization | ||
PD-1 (M) | SP/No | NOTCH4 | c.2865 + 2T > C | — | T/C | NA | 1,3,5 |
PD-2 (M) | SP/No | BCOR | c.478G > A | p.V160I | Hemi (A) | NA | 5 |
PD-5 (M) | SP/No | ITM2B | c.575A > T | p.Y192F | A/T | NA | 3 |
PD-6 (M) | FM/No | HRH4 | c.145C > T | p.R49X* | C/T | Father (Aff): C/T | 4 |
PD-13 (M) | SP/No | CELSR1 | c.8006T > G | p.L2669R | T/G | NA | 3 |
PD-16 (F) | FM/No | BSN | c.7808G > A | p.R2603Q | G/A | NA | 3 |
PD-17 (F) | SP/No | SNAP91 | c.737G > A | p.R246Q | G/A | NA | 3 |
PD-19a (M) | FM /No | FAM174A | c.451C > T | p.R151X* | C/T | Brother (Aff): C/T | 1,4 |
PD-23 (M) | FM /No | EIF4G1 | c.2144A > G | p.K715R | A/G | NA | 1,2 |
PD-28 (M) | NA | SPG7 | c.1027A > G | p.K343E | G/G | NA | 3 |
PD-29 (M) | SP/No | MAGI2 | c.1280C > T | p.T427I | C/T | NA | 3,5 |
PD-31 (M) | SP/Yes | ATP13A2 | c.1544C > T | p.T515M | C/T | NA | 2,3 |
PD-32 (M) | FM/No | PUM1 | c.2591 + 3G > A | — | G/A | NA | 1 |
PD-33 (M) | SP/Yes | CLSTN1 | c.553C > G | p.Q185E* | C/G | NA | 3,5 |
PD-34b (M) | FM/No | FAM174A | c.451C > T | p.R151X* | T/T | 2 affected male siblings (C/T) 2 affected male offspring (C/T) | 1,4 |
PD-40 (M) | SP/No | PLCB3 | c.698 + 4A > T | NA | A/T | NA | 5 |
PD-43 (M) | SP/No | EPRS | c.2513G > A | p.R838H* | G/A | NA | 1,3 |
PD-45 (M) | SP/No | DNAJB9 | c.626G > A | p.R209Q | G/A | NA | 3 |
PD-46 (F) | FM /No | PUM1 | c.2591 + 3G > A | — | G/A | NA | 1 |
PD-47 (M) | FM /Yes | HEPHL1 | c.1856A > G | p.N619S | A/G | Son (Aff): A/G | 4 |
PD-53 (F) | SP/No | CLSTN3 | c.1124C > T | p.T375I | C/T | NA | 3 |
PD-56c (M) | SP/No | EIF4G1 | c.2144A > G | p.K715R | A/G | NA | 1,2 |
PD-57 (F) | SP/No | EPRS | c.2372A > G | p.Y791C | A/G | NA | 1,3 |
PD-58 (M) | SP/Yes | NEFH | c.964C > G | p.R322G | C/G | NA | 3 |
PD-62 (M) | SP/No | EIF4G1 | c.2144A > G | p.K715R | A/G | NA | 1,2 |
PD-64 (M) | SP/No | NOTCH4 | c.3769C > T | p.Q1257X | C/T | NA | 1,3 |
