Table 3.
Selection of twelve PD samples with varying GBA1 variant frequencies.
| Sample | GBA1 (HGVS) | GBA1 (allelic name) | Variant frequency |
|---|---|---|---|
| 1 | p.(Glu365Lys) | E326K | 100 |
| 2 | p.(Glu365Lys) | E326K | 97.8 |
| 3 | p.(Glu365Lys) | E326K | 47.4 |
| 4 | p.(Glu365Lys) | E326K | 50.9 |
| 5 | p.(Glu365Lys) | E326K | 9.3 |
| 6 | p.([Leu363Pro];[Thr408Met]) | T369M; L324P | 50.5; 47.5 |
| 7 | p.(Thr408Met) | T369M | 87.4 |
| 8 | p.(Leu483Pro) | L444P | 9.6 |
| 9 | p.(Glu365Lys) | E326K | 10.6 |
| 10 | p.(Glu365Lys) | E326K | 5.2 |
| 11 | p.(Glu365Lys) | E326K | 3.7 |
| 12 | p.(Asn409Ser) | N370S | 50.9 |
Samples 5, 8, 9, 10 and 11 have an abnormally low variant frequency and sample 7 has a frequency too high for a normal heterozygous and too low for a normal homozygous variant. Sample 6 is compound heterozygous (T369M on one allele and L324P on the other allele). Both the HGVS nomenclature is given and the GBA1 allelic name, which excludes the 39-amino acid signaling peptide, both using accession NP_000148.2