Table 1.
Missense NOTCH1 variants, by anatomic defect of subject
| Nucleotide change | Exon | Amino acid change | Domain | Defects | Case freq. | Control freq. |
|---|---|---|---|---|---|---|
| c.2058G→A | 12 | G661S | EGF-like repeat 17 | AVS, BAV (1); BAV (1); COA, BAVa (1); HLHS (1) | 4/91** | 1/212 |
| c.2123G→A | 13 | A683T | EGF-like repeat 18 | AVS (1); HLHS (1) | 2/91 | 0/216 |
| c.2156G→A | 13 | E694K | EGF-like repeat 18 | AVS | 1/91 | 0/212 |
| c.3912G→A | 23 | R1279H | EGF-like repeat 33 | AVS (3) | 3/91 | 4/207 |
| c.4104C→T | 25 | A1343V | EGF-like repeat 34 | HLHS | 1/91 | 1/207 |
| c.4125G→T | 25 | R1350L | EGF-like repeat 35 | AVS | 1/91 | 1/208 |
| c.4898G→A | 26 | R1608H | Extracellular | AVS | 1/91 | 0/208 |
| c.7682G→A | 34 | V2536I | Cytoplasmic | COA, BAV | 1/91 | 0/209 |
AVS, aortic valve stenosis; BAV, bicuspid aortic valve; COA, coarctation of the aorta; HLHS, hypoplastic left heart syndrome.
aThis individual also has the R1279H variant in cis.
**P = 0.028 (Fisher exact) comparing cases versus control frequency.