Table 2 of
Meng, Mol Vis 2014; 20:1806-1814. Table 2 of
Meng, Mol Vis 2014; 20:1806-1814.
Table 2. CYP4V2 mutations identified in 92 families with BCD.
| Exon | DNA Change | Amino acid change | Type of nucleotide change | Allele frequency in | Note | |
|---|---|---|---|---|---|---|
| hom/heter | 100 Controls | 92 probands | ||||
| 1 | c.31C>T | p.Q11X | 1/0 | 0/200 | 2/184 | novel |
| 1 | c.64C>G | p.L22V | 1/4 | ND | 6/184 | Reported |
| 2 | c.215–2A>G | Splicing acceptor | 2/0 | ND | 4/184 | Reported |
| 2 | c.219T>A | p.F73L | 0/3 | 0/200 | 3/184 | Reported |
| 2 | c.283G>A | p.G95R | 0/5 | ND | 5/184 | Reported |
| 3 | c.413+2T>G | Splicing acceptor | 0/1 | 0/200 | 1/184 | novel |
| 6 | c.732G>A | p.W244X | 0/1 | ND | 1/184 | Reported |
| 6 | c.791del T | delet | 0/1 | 0/200 | 1/184 | novel |
| 7 | c.802–8_810del17insGC | Splicing acceptor | 28/41 | ND | 97/184 | Reported |
| 7 | c.958C>T | p.R320X | 0/1 | ND | 1/184 | Reported |
| 8 | c.992A>C | p.H331P | 0/22 | ND | 22/184 | Reported |
| 8 | c.1027T>G | p.Y343D | 0/1 | 0/200 | 1/184 | novel |
| 8 | c.1061–1062insA | Ins | 0/2 | ND | 2/184 | Reported |
| 9 | c.1091–2A>G | Splicing acceptor | 3/11 | ND | 17/184 | Reported |
| 9 | c.1187C>T | p.P396L | 0/2 | ND | 2/184 | Reported |
| Total | 35/95 | 165/184 | ||||