Table 2:
Functional coding variants identified by short-read whole genome sequencing in carriers of the novel GBA1 rs3115534 variant
| Variant | Base change | Functional consequence | Genetic variant | Cases with functional variant (n) | Controls with functional variant (n) | rs3115534-GG carriers (n) | rs3115534-GT carriers (n) | rs3115534-TT carriers (n) |
|---|---|---|---|---|---|---|---|---|
| chr1:155236249:A:C | A→C | Non-synonymous SNV | Ile320Ser | 1 | 0 | 0 | 1 | 0 |
| rs149487315 | C→T | Non-synonymous SNV | Met313Ile | 1 | 0 | 0 | 0 | 1 |
| rs143222798 | C→T | Synonymous SNV | Gly277Gly | 6 | 3 | 0 | 6 | 3 |
| rs61748906 | A→G | Non-synonymous SNV | Trp136Arg | 1 | 0 | 1 | 0 | 0 |
| rs368786234 | G→T | Non-synonymous SNV | Ser77Arg | 1 | 0 | 0 | 1 | 0 |
| rs761621516 | GTA→deleted | Non-frameshift deletion | Trp75del (222_224del) | 1 | 0 | 0 | 1 | 0 |
| rs150466109 | T→C | Non-synonymous SNV | Lys13Arg | 12 | 8 | 0 | 10 | 10 |
Analyses were done in 141 cases and 65 controls. All variants were on chromosome 1, were exonic, and were heterozygous. SNV=single nucleotide variant.