Table 2 of
Cevik, Mol Vis 2023; 29:217-233. Table 2 of
Cevik, Mol Vis 2023; 29:217-233.
Table 2. Genotypic characteristics of the patients with ABCA4 mutations.
| Patient No./Sex | Allele 1 | Allele 2 | ||
|---|---|---|---|---|
| ABCA4 Variation | Location (Domain) | ABCA4 Variation | Location (Domain) | |
| A01Fa | c.4793C>A:p(A1598D) | ECD2 | c.4793C>A:p(A1598D) | ECD2 |
| A02Ma | c.5018+2 T>C | sECD2 | c.5018+2 T>C | sECD2 |
| A03M | c.5714+5G>A | sNBD2 | c.3758C>T:p(T1253M);c.5882G>A:p(G1961E) | RD1, NBD2 |
| A04Fb | c.161G>A:p(C54Y) | ECD1 | *c.6698A>T:p(E2233V) | RD2 |
| A05Fb | c.161G>A:p(C54Y) | ECD1 | *c.6698A>T:p(E2233V) | RD2 |
| A06F | c.1622T>C:p(L541P);c.3113C>T:p(A1038V) | ECD1, NBD1 | c.4234C>T:p(Q1412*) | ECD2 |
| A07Mc | c.1622T>C:p(L541P);c.3113C>T:p(A1038V) | ECD1, NBD1 | c.5714+5G>A | sTMD2 |
| A08Mc | c.1622T>C:p(L541P);c.3113C>T:p(A1038V) | ECD1, NBD1 | c.5714+5G>A | sTMD2 |
| A09M | c.634C>T:p( R212C) | ECD1 | c.768G>T:p( V256=) | ECD1 |
| A10M | c.4139C>T:p(P1380L) | TMD2 | c.4139C>T:p(P1380L) | TMD2 |
| A11F | c.4539+2028C>T | sECD2 | c.859-13T>C | sECD1 |
| A12F | c.850_857delATTCAAGA:p(I284fs) | ECD1 | c.6184_6187delGTCT:p(V2062fs) | NBD2 |
| A13M | c.3292C>T:p(R1098C) | NBD1 | c.664delG:p(A222fs) | ECD1 |