Table 4 List of GBA pathogenic variants considered for the inclusion of patients in the GBA-associated Parkinson’s disease group.
From: Serum lipid profile among sporadic and familial forms of Parkinson’s disease
Allele | cDNA | Protein | Exon | n |
|---|---|---|---|---|
D409H | c.1342 G/C | p.Asp448His | 10 | 2 |
L444P | c.1448 T/C | p.Leu483Pro | 11 | 4 |
N370S | c.1223 A/G | p.Asn409Ser | 10 | 12 |
S310G | c.928 A/G | p.Ser310Gly | 8 | 3 |
L29fs | c.84dupG | p.Leu29Alafs*18 | 3 | 1 |
R535H | c.1604G > A | p.Arg535His | 12 | 1 |
V457D | c.1487 T/A | p.Val496Asp | 11 | 2 |
G195W | c.700 G > T | p.Gly234Trp | 7 | 2 |
F213I | c.754 T > A | p.Phe252Ile | 7 | 2 |
R262C | c.901 C > T | p.Arg301Cys | 8 | 1 |
