Table 3 of
Joo, Mol Vis 2019; 25:679-690. Table 3 of
Joo, Mol Vis 2019; 25:679-690.
Table 3. Profiles of pathogenic variants in Korean families with ABCA4-associated retinopathies.
| No. exon /intron | Nucleotide change | Protein variant / annotation | No. family† | Disease | Polyphen (score) | SIFT (score) | Mutation taster (ENST00000370225) | CADD Phred score (GRCh37-v1.4)‡ | Allele frequency (%) in gnomAD¶ | Clinical significance (ClinVar) |
|---|---|---|---|---|---|---|---|---|---|---|
| 6 | c.575C>T | p.Ala192Val | 1 | FF | Benign | Tolerated (0.58) | Disease causing | 19.32 | 0.000213 | Not provided§ |
| -0.353 | (58/272,116) | |||||||||
| 8 | c.880C>T | p.Gln294Ter | 1 | RP | NA | NA | Disease causing | 35 | None | Pathogenic |
| 12 | c.1760+2T>G | Splice site | 1 | STGD | NA | NA | NA | 23.1 | None | Pathogenic |
| 13 | c.1906C>A | p.Gln636Lys | 2 | RP, CRD | Possibly damaging | Deleterious | Disease causing | 26 | None | Novel |
| -0.634 | 0 | |||||||||
| 13 | c.1933G>A | p.Asp645Asn | 1 | STGD | Probably damaging, (0.954) | Deleterious (0) | Disease causing | 28.4 | 1.99E-05 | Not provided |
| (5/251,094) | ||||||||||
| 23 | c.3342_3344delCAT | p.Ile1114del | 1 | STGD | NA | NA | Disease causing | NA | None | Novel |
| 23 | c.3349A>G | p.Thr1117Aal | 1 | STGD | Damaging | Deleterious (0) | Disease causing | 26.5 | None | Novel |
| 23 | c.3420C>G, | p.Cys1140Trp, | 1 | STGD | Probably damaging, (0.997) | Deleterious (0) | Disease causing | 25.8 | None | Reported#18 |
| 23 | c.3470T>G, | p.Leu1157Ter, | 2 | STGD | NA | NA | Disease causing | 43 | None | Reported12 |
| 33 | c.4748T>C | p.Leu1583Pro | 1 | CRD | Possibly damaging, (0.878) | Deleterious (0) | Disease causing | 25.9 | 7.95E-06 | Not provided |
| (2/251,468) | ||||||||||
| 33 | c.4762A>T, | p.Asn1588Tyr | 2 | STGD | Probably damaging, (0.962) | Deleterious (0.04) | Disease causing | 26.7 | None | Novel |
| 44 | c.6146delA, | p.Lys2049ArgfsTer12 | 2 | STGD | NA | NA | Disease causing | NA | None | Reported12 |