Patients and families with mutations in the converter region from the bibliography
| Mutation | N Families | N Patients | N Carriers | Diagnosis | Cardiovascular death or transplant | References (see online supplementary file A) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HCM | DCM | RCM | LVNC | SD | UC | NA | SD | HTX | Stroke | HF | Other | Total | |||||
| Arg712Leu | 1 | 6 | 5 | 4 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 1 | ||||
| Gly716Arg | 15 | 46 | 33 | 26 | 2 | 2 | 2 | 14 | 17 | 2 | 1 | 5 | 0 | 25 | 2–7 15 18 19 21 23 27 34 | ||
| Arg719Gln | 30 | 58 | 30 | 50 | 7 | 0 | 1 | 29 | 5 | 0 | 3 | 1 | 38 | 8–30 96 | |||
| Arg719Trp | 26 | 90 | 80 | 81 | 1 | 4 | 2 | 2 | 21 | 1 | 0 | 4 | 1 | 27 | 18 19 23 25 30–47 81 | ||
| Arg721Lys | 1 | 2 | 2 | 0 | 2 | 0 | 0 | 0 | 1 | 0 | 1 | 48 | |||||
| Arg723Cys | 8 | 20 | 20 | 14 | 1 | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 23 46 49–59 96 | ||||
| Arg723Gly | 8 | 77 | 75 | 66 | 5 | 2 | 4 | 7 | 4 | 1 | 8 | 0 | 20 | 60–67 | |||
| Arg723His | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 68 | ||||||
| Ala728Val | 1 | 7 | 6 | 7 | 3 | 0 | 0 | 0 | 0 | 3 | 69 | ||||||
| Pro731Leu | 2 | 4 | 2 | 2 | 1 | 1 | 3 | 0 | 0 | 0 | 0 | 3 | 70–88 | ||||
| Gly733Glu | 4 | 9 | 9 | 7 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 23 72 73 | ||||
| Gly733Arg | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 71 | |||||
| Gln734Glu | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 74–76 | ||||||
| Ile736Met | 2 | 2 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 77 78 88 94 95 | ||||||
| Ile736Thr | 10 | 24 | 24 | 18 | 2 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 16 37 64 79 81–96 94–96 | ||||
| Gly741Arg | 9 | 10 | 10 | 10 | 0 | 0 | 0 | 0 | 0 | 0 | 15 23 24 27 80 87–90 | ||||||
| Gly741Trp | 6 | 28 | 28 | 28 | 0 | 0 | 0 | 0 | 0 | 0 | 21 88 91–95 | ||||||
| Ala742Glu | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 96 | ||||||
| Val763Gly | 1 | 2 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 84 | |||||
| Val763Met | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 21 | ||||||
| Phe764Leu | 1 | 4 | 3 | 0 | 3 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 74 97 98 | ||||
| Gly768Arg | 5 | 15 | 14 | 11 | 1 | 1 | 0 | 2 | 1 | 1 | 0 | 1 | 0 | 3 | 16 18 19 23 80 99–100 | ||
| Total | 135 | 409 | 350 | 331 | 13 | 5 | 3 | 32 | 5 | 20 | 84 | 13 | 2 | 22 | 2 | 123 | |
CVA, death related to cerebrovascular accident; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; HF, heart failure related death; HTX, heart transplantation; LVNC, LV non-compaction; NA, not clinically affected; Other, other cardiovascular cause of death; RCM, restrictive cardiomyopathy; SD, sudden death without diagnosis; UC, unspecified cardiomyopathy.