Table 3 of Mamatha, Mol Vis 2011; 17:1970-1977. Table 3 of Mamatha, Mol Vis 2011; 17:1970-1977.
Table 3. Mutation profile of CYP4V2 in Bietti crystalline dystrophy (BCD) patient cohort.
Gene |
Cases |
Location |
Nucleotide variation* |
Protein effect |
Predicted pathogenic |
|---|---|---|---|---|---|
| CYP4V2 | 1 | Exon 4 | c.453 A>C* | p.T151T (ht) | No |
| 1 & 2 | Exon 6 | c.775 C>A* | p.Q259K | No | |
| 1 & 2 | Exon 7 | c.810 T>G | p.A270A | No | |
| 1 | Exon 7 | c.987 G>A* | p.E329E | No | |
| 3 | Exon 8 | c.1062_1063dupA* | p.Val354Serfs2X | Yes | |
| 1, 2, & 3 | Intron 9 | IVS9–24 A>G* | Nil | No |