Table 7. Distribution of pathogenic variants in the ABCA4 gene.
| Single alleles | |||
|---|---|---|---|
| Nucleotide Change | Protein Change | Location | Allele† |
| c.32T>C |
p.Leu11Pro |
1 |
1 |
| c.66G>T |
p.Lys22Asn |
1 |
2 |
| c.70C>T |
p.Arg24Cys |
2 |
1 |
| c.223T>G |
p.Cys75Gly |
3 |
1 |
| c.286A>G |
p.Asn96Asp |
3 |
5 |
| c.455G>A |
p.Arg152Gln |
5 |
1 |
| c.634C>T |
p.Arg212Cys |
6 |
2 |
| c.658C>T |
p.Arg220Cys |
6 |
1 |
| c.1364 T>A |
p.Leu455Gln |
11 |
1 |
| c.1648G>A |
p.Gly550Arg |
12 |
1 |
| c.1804C>T |
p.Arg602Trp |
13 |
12 |
| c.2345G>A |
p.Trp782* |
15 |
2 |
| c.2743G>A |
p.Asp915Asn |
19 |
1 |
| c.2791G>A |
p.Val931Met |
19 |
1 |
| c.2894 A>G |
p.Asn965Ser |
19 |
1 |
| c.3056C>T |
p.Thr1019Met |
21 |
1 |
| c.3329–2A>T |
p.? |
Intron 22 |
2 |
| c.3386G>T |
p.Arg1129Leu |
23 |
3 |
| c.3862+1G>A |
p.? |
Intron 26 |
3 |
| c.3898C>T |
p.Arg1300* |
27 |
1 |
| c.4003_4004delCC |
p.Pro1335Argfs*86 |
27 |
1 |
| c.4340A>T |
p.Glu1447Val |
29 |
1 |
| c.4457C>T |
p.Pro1486Leu |
30 |
1 |
| c.4720G>T |
p.Glu1574* |
33 |
1 |
| c.5044_5058del15 |
p.Val1682_Val1686del |
36 |
1 |
| c.5381C>A |
p.Ala1794Asp |
38 |
2 |
| c.5461–10T>C |
p.[Thr1821Valfs*13, Thr1821Aspfs*6] |
Intron 38 |
1 |
| c.5714+5G>A |
p.? |
Intron 40 |
2 |
| c.6005+1G>T |
p.? |
Intron 43 |
1 |
| c.6079C>T |
p.Leu2027Phe |
44 |
2 |
| c.6088C>T |
p.Arg2030* |
44 |
3 |
| c.6112C>T |
p.Arg2038Trp |
44 |
1 |
|
c.6250G>C |
p.Ala2084Pro |
45 |
1 |
| c.6320G>A | p.Arg2107His | 46 | 1 |
Novel vatiant.† Number of alleles that each variant has apear.Patient 27 was excluded of this table due to the absence of segregation analysis. FAF, Fundus autofluorescence; Pt, Patient; N/A, not available; HM, Hand movement; FC, Finger counting. Novel variant. †Homozygous variants. ‡c.5044_del15bp, nonframeshift deletion (c.5044_5058delGTTGCCATCTGCGTG). Families: Siblings: 4 and 6; 17 and 20; 18 and 19; 41 and 49. Mother 44 and daughter 43. Mother 45 and daughter 36. § Consanguinity •Patient 27 presented with 3 pathogenic variants, but without segregation analysis it was impossible to determinate which of them are combined in cis.