Table 2.
STGD1 patients with deep intronic disease-associated ABCA4 variants
| Patient | Disease-associated ABCA4 variants in trans | Pathogenicity class | Deep-intronic disease-associated ABCA4 variants |
|---|---|---|---|
| 1 | c.161G>A (p.Cys54Tyr) | PS3 | c.[4253+43G>A;6006-609T>A] |
| 2 | c.161G>A (p.Cys54Tyr) | PS3 | c.[4253+43G>A;6006-609T>A] |
| 3 | c.247_250dup (p.Ser84Thrfs*15) | PVS1 | c.4253+43G>Aa |
| 4 | c.768G>T (p.Leu257Valfs*17) | PVS1 | c.4253+43G>Aa |
| 5 | c.768G>T (p.Leu257Valfs*17) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 6 | c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val]) | PS3 | c.[4253+43G>A;6006-609T>A] |
| 7 | c.1819G>A (p.Gly607Arg) | PS4 | c.4253+43G>Aa |
| 8 | c.1819G>A (p.Gly607Arg) | PS4 | c.4253+43G>A |
| 9 | c.1988G>A (p.Trp663*) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 10 | c.3470T>G (p.Leu1157*) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 11 | c.3814-2A>G (p.?) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 12 | c.3898C>T (p.Arg1300*) | PVS1 | c.4253+43G>Aa |
| 13 | c.4248C>A (p.Phe1416Leu) | PP3 | c.4253+43G>A |
| 14 | c.4539+1G>T (p.?) | PVS1 | c.4253+43G>Aa |
| 15 | c.4539+1729G>T (p.?) | PP3 | c.[4253+43G>A;6006-609T>A] |
| 16 | c.4918C>T (p.Arg1640Trp) | PS3 | c.[4253+43G>A;6006-609T>A] |
| 17 | c.5312+2T>G (p.?) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 18 | c.5461-10T>C (p.Thr1821Valfs*13, p.Thr1821Aspfs*6) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 19 | c.5461-10T>C (p.Thr1821Valfs*13, p.Thr1821Aspfs*6) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 20 | c.5461-10T>C (p.Thr1821Valfs*13, p.Thr1821Aspfs*6) | PVS1 | c.[4253+43G>A;6006-609T>A] |
| 21 | c.5461-10T>C (p.Thr1821Valfs*13, p.Thr1821Aspfs*6) | PVS1 | c.4253+43G>A |
| 22 | c.5461-10T>C (p.Thr1821Valfs*13, p.Thr1821Aspfs*6) | PVS1 | c.4253+43G>A |
| 23 | c.5914G>A (p.Gly1972Arg) | PM2 | c.4253+43G>Aa |
| 24 | c.[70C>T(;)2041C>T] (p.[Arg24Cys(;)Arg681*]) | PP3, PVS1 | c.4253+43G>Aa |
| 25 | c.[4139C>T(;)5308T>G] (p.[Pro1380Leu(;)Tyr1770Asp]) | PS3, PM2 | c.[4253+43G>A;6006-609T>A] |
| 26 | c.6543_6578del (p.Leu2182_Phe2193del) homozygote | PVS1 | c.4253+43G>A |
| 27 | ND | c.[4253+43G>A;6006-609T>A] | |
| 28 | ND | c.4253+43G>A | |
| 29 | ND | c.4253+43G>A | |
| 30 | c.1726G>C (p.Asp576His) | PS4 | c.5196+1056A>G |
| 31 | c.3056C>T (p.Thr1019Met) | PS4 | c.5196+1056A>G |
| 32 | c.3413T>A (p.Leu1138His) | PM2 | c.5196+1056A>G |
| 33 | c.5882G>A (p.Gly1961Glu) | PS3 | c.5196+1056A>G |
| 34 | c.5882G>A (p.Gly1961Glu) | PS3 | c.5196+1056A>G |
Nucleotide positions and protein translation correspond to CCDS747.1 and NP_000341.2, respectively. Nucleotide numbering uses the A of the ATG translation initiation start site as nucleotide 1.
ND, not detected.
aNot screened for c.6006-609T>A.