Table 1.
Category | Nucleotide change | Protein change | Centenarians, n = 79 |
Control, n = 161 |
||
---|---|---|---|---|---|---|
Het | Hom | Het | Hom | |||
Nonsynonymous | 244G>A | Ala-37–Thr | 1 | 0 | 0 | 0 |
1355G>A | Arg-407–His | 1 | 0 | 0 | 0 | |
Synonymous | 948C>A | Gly-271–Gly | 7 | 0 | 16 | 0 |
1545G>A | Thr-470–Thr | 1 | 0 | 0 | 0 | |
1959C>T | Asn-608–Asn | 0 | 0 | 1 | 0 | |
1995G>T | Arg-620–Arg | 0 | 0 | 1 | 0 | |
2343C>T | Thr-736–Thr | 3 | 0 | 2 | 0 | |
2745C>T | Asn-870–Asn | 1 | 0 | 3 | 0 | |
3174G>A | Glu-013–Glu | 48 | 20 | 67 | 29 | |
4083C>T | Tyr-1316–Tyr | 5 | 0 | 7 | 0 | |
4103C>T | Arg-1323–Arg | 1 | 0 | 0 | 0 | |
Intronic | IVS2+20C>T | 42 | 8 | 65 | 12 | |
IVS8–20T>C | 49 | 13 | 67 | 34 | ||
IVS13+17G>A | 1 | 0 | 2 | 0 | ||
IVS13+21A>C | 47 | 3 | 62 | 41 | ||
IVS13+29_30delGT | 26 | 1 | 38 | 3 | ||
IVS15+49insG | 1 | 0 | 0 | 0 | ||
IVS15+52A>G | 0 | 0 | 1 | 0 | ||
IVS17−5C>T | 1 | 0 | 3 | 0 | ||
IVS21–34G>A | 46 | 15 | 59 | 42 |
Het, number of heterozygote carriers of variant; Hom, number of homozygote carriers of variant. Previously unknown, novel variants are indicated in bold.