Table 1 Details of individual patients and CYP4V2 genetic variants identified in the study population (based on NM_207352.4).
ID | Family ID | Gender | Ethnicity | Variant and predicted protein change | Variant type | BCVA at (age) |
|---|---|---|---|---|---|---|
01 | 19152 | M | White other | c.76 G > C, p.(Gly26Arg) | Missense | 0.1 (33 y) |
c.802-8_810delinsGC, del of exon7 | Deletion | |||||
02 | 15147 | F | White other | c.77 G > A, p.G(ly26Asp) | Missense | 0.2 (52 y) |
c.985+3 A > G | Splice site | |||||
03 | 1768 | M | Asian Other | Homozygous c.197 T > G, p.(Met66Arg) | Missense | −0.1 (48 y) |
04 | 18486 | M | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0.3 (31 y) |
05 | 19068 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (33 y) |
06 | 19280 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (40 y) |
07 | 19455 | M | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (39 y) |
08 | 19455 | M | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (24 y) |
09 | 19455 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (17 y) |
10 | 19455 | M | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0.5 (64 y) |
11 | 20250 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 1.4 (55 y) |
12 | 20250 | M | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (56 y) |
13 | 20502 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0.2 (35 y) |
14 | 5048 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0.3 (43 y) |
15 | 5048 | F | Asian Indian | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (41 y) |
16 | 28956 | F | Unknown | Homozygous c.197 T > G, p.(Met66Arg) | Missense | PL (53 y) |
17 | 28240 | M | Unknown | Homozygous c.197 T > G, p.(Met66Arg) | Missense | 0 (33 y) |
18 | 19705 | F | Unknown | Homozygous c.279 G > A, p.(Trp93*) | Nonsense | 0.2 (29 y) |
19 | 18641 | M | White other | c.283 G > A, p.(Gly95Arg) | Missense | 0.06 (15 y) |
c.637_641del, p.(Ser213*) | Deletion | |||||
20 | 26639 | F | White other | Homozygous c.414-1 G > A | Splice site | 0.5 (29 y) |
21 | 17557 | F | Middle Eastern | Homozygous c.677 T > A, p.(Met226Lys) | Missense | 0.3 (25 y) |
22 | 18984 | F | East Asian | Homozygous c.802-8_810delinsGC, del of exon 7 | Deletion | 0 (37 y) |
23 | 19712 | M | White other | Homozygous c.802-8_810delinsGC, del of exon 7 | Deletion | - |
24 | 4795 | M | East Asian | c.802-8_810delinsGC, del of exon 7 | Deletion | 0.5 (28 y) |
c.1199 G > A, p.(Arg400His) | Missense | |||||
25 | 22495 | M | Unknown | c.802-8_810delinsGC, del of exon 7 | Deletion | CF (48 y) |
c.992 A > C, p.(His331Pro) | Missense | |||||
26 | 15601 | F | White British | Homozygous c.998 C > A, p.(Thr333Lys) | Missense | 0 (51 y) |
27 | 27072 | F | Unknown | Homozygous c.1168 C > T, p.(Arg390Cys) | Missense | 0.6 (33 y) |
28 | 18373 | F | White other | Homozygous c.1393 A > G, p.(Arg465Gly) | Missense | 0.5 (55 y) |
