Table 2 Proportions of recessive non-hypomorphic missense mutations in known functional RYR1 domains analyzed by histological diagnosis
From: Genotype-phenotype correlations in recessive RYR1-related myopathies
| Â | Diagnostic categories | |||||||
|---|---|---|---|---|---|---|---|---|
All mutations+ | CCD | MmD | Atypical core | CNM/CNM- | CFTD | RYR1-related | ||
(N = 102) | (N = 17) | (N = 16) | myopathy | like myopathy | (N = 5) | myopathy | ||
(N = 27) | (N = 21) | (N = 10) | ||||||
Domains | Expected %^ | Observed % (CI) | Observed % (CI) | Observed % (CI) | Observed % (CI) | Observed % (CI) | Observed % (CI) | Observed % (CI) |
MH/CCD hotspot domains | 37.8 | 52 (39–64) ** | 88 (53–98) ** | 38 (19–61) | 52 (34–69) | 43 (25–64) | 0 (0–40) | 60 (31–83) |
  Hotspot domain 1 | 11.5 | 16 (10–24) | 24 (9–47) | 13 (4–36) | 11 (4–28) | 5 (1–22) | 0 (0–40) | 30 (11–60) |
  Hotspot domain 2 | 5.9 | 10 (5–17) | 6 (1–27) | 13 (4–36) | 11 (4–28) | 5 (1–22) | 0 (0–40) | 30 (8–68)** |
  Hotspot domain 3 | 20.4 | 26 (19–36) | 59 (30–83) ** | 13 (4–36) | 30 (16–49) | 33 (17–55) | 0 (0–40) | 0 (0–28) |
Selectivity filter o | 0.002% | 3 (0.7- 11)** | 18 (5–49)** | 0 (0–20) | 0 (0–13) | 0 (0–16) | 0 (0–43) | 0 (0–28) |
Triadin | 1.2 | 6 (2–15) ** | 18 (5–49) ** a | 6 (1–28) | 4 (1–18) | 5 (1–22) | 0 (0–43) | 0 (0–28) |
DHPR | 31.4 | 22 (15–31) | 6 (0–27) | 19 (7–43) | 19 (8–37) | 19 (8–40) | 20 (4–62) | 60 (31–83) |
SPRY domains | 8.0 | 10 (5–17) | 6 (1–27) | 6 (1–28) | 0 (0–13) | 14 (5–35) | 20 (4–62) | 10 (2–40) |
S100A1 | 12.0 | 5 (2–11) | 6 (1–27) | 6 (1–28) | 4 (1–18) | 0 (0–16) | 20 (4–62) | 10 (2–40) |
apoCaM | 11.0 | 7 (3–14) | 0 (0–18) | 0 (0–20) | 15 (6–33) | 14 (4–35) | 0 (0–43) | 0 (0–28) |
CaCaM | 2.7 | 1 (0–5) | 0 (0–18) | 0 (0–20) | 4 (1–18) | 0 (0–16) | 0 (0–43) | 0 (0–28) |
Interdomain interactions | 1.5 | 1 (0–5) | 0 (0–18) | 0 (0–20) | 0 (0–13) | 5 (1–22) | 0 (0–43) | 0 (0–28) |