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 |
* Novel variation; ht represents heterozygous.