Table 1.
GBA variants identified in the current study and their nomenclature.
| Genomic Position | cDNA nucleotide substitution | Full length Protein | GBA variant |
|---|---|---|---|
| 1:155209737 | c.247C>T | p.Arg83Cys | p.R44C |
| 1:155210451_155210452 | c.84dupG | p.Leu29Alafs*18 | 84GG |
| 1:155208006 | c.680A>G | p.Asn227Ser | p.N188S |
| 1:155206167 | c.1093G>A | p.Glu365Lys | p.E326K |
| 1:155206037 | c.1223C>T | p.Thr408Met | p.T369M |
| 1:155205634 | c.1226A>G | p.Asn409Ser | p.N370S |
| 1:155205592 | c.C1268A | p.Ala423Asp | p.A384D |
| 1:155205563 | c.1297G>T | p.Val433Leu | p.V394L |
| 1:155205514 | c.1346C>T | p.Thr449Met | p.T410M |
| 1:155205043 | c.1448T>C | p.Leu483Pro | p.L444P |
| 1:155204992 | c.1499T>C | p.Leu500Pro | p.L461P |
| 1:155204793 | c.1604G>A | p.Arg535His | p.R496H |