Table I.
Nonsynonymous or synonymous variants identified in CDC42 (NM_001791) in probands either with DCM, HCM, LVNC, or congenital heart diseases (Houston study)
| Location | Nucleotide change | Amino acid change | Type of variant | Patient group | Frequency | |||
| DCM (n = 96) | HCM (n = 48) | CHD (n = 96) | LVNC (n = 91) | |||||
| Amplicon1 (Exon 1) | c.188G>T | V8F | NP | 6 | 0 | 0 | 0 | 6/331 |
| (1.8%) | ||||||||
| c.242A>C | N26N | S | 1 | 0 | 0 | 0 | 1/331 | |
| (0.3%) | ||||||||
| c.256G>A | S30S | S | 2 | 0 | 1 | 0 | 3/331 | |
| (0.9%) | ||||||||
| c.257G>C | E31Q | NP | 46 | 11 | 52 | 29 | 138/331 | |
| (41.7%) | ||||||||
| c.271+6 T>G | Intron 3 splice ds | NP | 2 | 5 | 0 | 0 | 7/331 | |
| (2.1%) | ||||||||
| Amplicon2 (Exon2) | c.272-9 insT | Intron3 splice as | NP | 4 | 0 | 0 | 0 | 4/331 |
| (1.2%) | ||||||||
| c.272-7 T>C | Intron3 splice as | NP | 5 | 2 | 0 | 8 | 15/331 | |
| (4.5%) | ||||||||
| c.272-2 T>C | Intron3 splice as | NP | 6 | 0 | 4 | 3 | 13/331 | |
| (3.9%) | ||||||||
| c.289 A>C | A41A | S | 4 | 0 | 2 | 1 | 7/331 | |
| (2.1%) | ||||||||
| c.295 A>C | T43T | S | 5 | 0 | 0 | 0 | 5/331 | |
| (1.5%) | ||||||||
| c.317 T>C | Y51H | NP | 1 | 22 | 14 | 10 | 47/331 | |
| (14.2%) | ||||||||
| Amplicon4 (Exon 4) | c.502T>A | L112L | S | 0 | 0 | 0 | 2 | 2/331 |
| (0.6%) | ||||||||
| c.513A>C | Q116P | NP | 5 | 0 | 0 | 1 | 6/331 | |
| (1.8%) | ||||||||
| c.523 C>T | L119L | S | 7 | 0 | 1 | 2 | 10/331 | |
| (3.0%) | ||||||||
| c.525 G>A | R120K | NP | 2 | 0 | 49 | 0 | 51/331 | |
| (15.4%) | ||||||||
| c.628 T>C | Y154Y | S | 5 | 1 | 2 | 0 | 8/331 | |
| (2.4%) | ||||||||
| (rs16826536) | ||||||||
| c.539 A>G | T125A | Rare variant | 0 | 0 | 1 | 0 | 1/331 | |
| (0.3%) | ||||||||
| Amplicon5 (Exon5) | c.730 T>G | C188W | NP | 3 | 0 | 10 | 12 | 25/331 |
| (7.5%) | ||||||||
DCM, dilated cardiac myopathy; HCM, hypertrophic cardiac myopathy; LVNC, left ventricular noncompaction; CHD, congenital heart disease; S, synonymous change; NP, nonsynonymous polymorphism.