Table 6. Clinical background of patients with long-QT interval and RYR2 mutation.
cDNA level change | Protein level change | age | sex | Affected family members | QTc | event |
---|---|---|---|---|---|---|
c.497C>G | p.S166C | 11 | F | none | 416 | Syncope during swim, novel |
c.1259G>A | p.R420Q | 14 | M | none | 412 | Syncope during swim (12 y), SD (17 y) |
c.1298T>C | p.L433P | 18 | F | none | 452 | VF during exercise (17 y) |
c.5278C>T | p.R1760W | 16 | M | none | 425 | Syncope during swim, novel |
c.8470C>T | p.R2824W | 7 | M | none | 439 | Asympt, novel |
c.11017C>T | p.R3673W | 16 | M | none | 469 | Heart failure, novel |
c.12272C>T | p.A4091V | 16 | M | none | 443 | CA during exercise |
c.12438G>C | p.E4146D | 2 | F | none | 401 | VF, novel |
c.13780A>C | p.K4594Q | 12 | F | none | 496 | Syncope during swim (10 y), novel |