Table 3.
Alleles defined by this study. The novel sequence variants are shown in bold
| GBA mutationsa | cDNA nucleotide substitutionb | Exon | Proteinc | # of alleles |
|---|---|---|---|---|
| Substitutions | ||||
| R48Q | c.260G>A | 3 | p.Arg87Gln | 1 |
| R120Wd | c.475C>T | 5 | p.Arg159Trp | 3 |
| M123T | c.485T>C | 5 | p.Met162Thr | 1 |
| S125N | c.491G>A | 5 | p.Ser164Asn | 1 |
| R131C | c.508C>T | 5 | p.Arg170Cys | 1 |
| W179X | c.653G>A | 6 | p.Trp218X | 1 |
| N188Sd | c.680A>G | 6 | p.Asn227Ser | 1 |
| G202Rd | c.721G>A | 6 | p.Gly241Arg | 1 |
| F213L | c.756T>G | 6 | p.Phe252Leu | 1 |
| P245T | c.850C>A | 7 | p.Pro284Thr | 1 |
| H311R | c.1049A>G | 8 | p.His350Arg | 1 |
| Y313H | c.1054T>C | 8 | p.Tyr352His | 1 |
| E349K | c.1162G>A | 8 | p.Glu388Lys | 1 |
| R353W | c.1174C>T | 8 | p.Arg392Trp | 1 |
| N370S | c.1226A>G | 9 | p.Asn409Ser | 26 |
| G377S | c.1246G>A | 9 | p.Gly416Ser | 12 |
| W378C | c.1251G>C | 9 | p.Trp417Cys | 6 |
| N396T | c.1304A>T | 9 | p.Asn435Thr | 4 |
| V398I | c.1309G>A | 9 | p.Val437Ile | 6 |
| D399H | c.1312G>C | 9 | p.Asp438His | 1 |
| L444Pd | c.1448T>C | 10 | p.Leu483Pro | 2 |
| I489T | c.1583T>C | 11 | p.Ile528Thr | 7 |
| R496H | c.1604G>A | 11 | p.Arg535His | 1 |
| Insertions | ||||
| 84insG | c.84dupG | 2 | p.Leu29AlafsX18 | 1 |
| 982-983insTGC | c.980_982dupTGC | 7 | p.Leu327_Pro328insLeu | 1 |
| Deletions | ||||
| 413delC | c.413delC | 4 | p.Pro138LeufsX62 | 1 |
| 793delC | c.793delC | 7 | p.Gln265SerfsX5 | 2 |
| Complex alleles | ||||
| E326K + L444Pd | c.1093G>A | 8 | p.Glu365Lys | 1 |
| c.1448T>C | 10 | p.Leu483Pro | ||
| M361I + N370S | c.1200G>A | 8 | p.Met400Ile | 1 |
| c.1226A>G | 9 | p.Asn409Ser | ||
| c.1448T>C | 10 | p.Leu483Pro | ||
| RecNciI | c.1483G>C | 10 | p.Ala495Pro | 3 |
| c.1497G>C | 10 | p.Val499Val | ||
| L461Pd + IVS10+1G>T | c.1499T>C | 10 | p.Leu500Pro | 1 |
| c.1505+1G>T | p.Lys464_Arg502del |
a GBA mutations are named according to www.hgvs.org/mutnomen
bNucleotides are numbered from the A of the first ATG
cAmino acid designations (“p.”) are based on the primary GBA translation product, including the 39-residue signal peptide
dThese alterations correspond to the normal pseudogene sequence