Table 5.
CPB1 variants identified in German patients with CP
Exon | Nucleotide Change | Amino Acid Change | Genotype | Nonalcoholic CP (%) | Controls (%) | P Value |
---|---|---|---|---|---|---|
Nonsynonymous | ||||||
3 | c.193A>G | p.S65G | AG | 6/497 (1.2) | 4/410 (1.0) | 1.00 |
4 | c.329G>A | p.R110H | GA | 0/497 (0) | 1/410 (0.2) | 0.45 |
4 | c.359A>G | p.N120S | AG | 1/497 (0.2) | 1/410 (0.2) | 1.00 |
5 | c.457G>A | p.A153T | GA | 0/497 (0) | 1/410 (0.2) | 0.45 |
6 | c.516C>A | p.D172E | CA | 12/497 (2.4) | 4/410 (1.0) | 0.13 |
7 | c.584G>A | p.R195H | GA | 12/497 (2.4) | 11/410 (2.7) | 0.83 |
7 | c.622G>A | p.D208N | GA | 160/497 (32.2) | 138/410 (33.7) | 0.82 |
AA | 24/497 (4.8) | 17/410 (4.2) | ||||
8 | c.622G>A | p.F232L | GA | 0/497 (0) | 1/410 (0.2) | 0.45 |
9 | c.927G>T | p.M309I | GT | 0/497 (0) | 1/410 (0.2) | 0.45 |
11 | c.1090G>T | p.D364Y | GT | 1/497 (0.2) | 1/410 (0.2) | 1.00 |
11 | c.1207C>G | p.L403V | CG | 0/497 (0) | 1/410 (0.2) | 0.45 |
Synonymous | ||||||
3 | c.192C>T | p.H64= | CT | 2/497 (0.4) | 2/410 (0.5) | 1.00 |