Table 1.
Potentially pathologic ZNF 469 alleles identified in keratoconus and control subjects
| Nucleotide changea | Amino acid changea | Present in 1KG data [MAF (%)] | Present in EVS data [MAF (%)] | rs number | SIFT prediction (SIFT score)b | Amsler–Krumeich classificationc |
Corneal transplantation | |
|---|---|---|---|---|---|---|---|---|
| Right eye | Left eye | |||||||
| Keratoconus cohort | ||||||||
| c.290C > T | p.Pro97Leu | No | No | rs273585617 | Damaging (0) | Stage III | Stage II | No |
| c.337G > A | p.Glu113Lys | No | No | NA | Damaging (0) | Stage II | Stage II | No |
| c.2063C > A | p.Thr688Asn | No | No | NA | Damaging (0) | Stage IV | Stage III | No |
| c.2699C > G | p.Pro900Arg | No | No | rs273585618 | Damaging (0.02) | Stage III | Stage II | Yes; right eye |
| c.2699C > T | p.Pro900Leu | No | No | rs273585618 | Damaging (0) | Stage II | Stage II | No |
| c.2904_2909del GTCGGG | p.Ser969_Gly970 del (in-frame deletion) | No | No | NA | NA | Stage IV | Stage III | Yes; right eye |
| c.3119A > C | p.Lys1040Thr | No | No | rs273585619 | Damaging (0) | Stage III | Stage III | Yes; right eye |
| c.4363G > T | p.Ala1455Ser | No | No | rs116532825 | Damaging (0.02) | Stage I | Stage III | Yes; left eye |
| c.5464C > A | p.Pro1822Thr | Yes (NA) | No | rs74032866 | Damaging (0.04) | Stage I | Stage I | No |
| c.6095C > A | p.Ser2032Tyr | No | No | rs273585623 | Damaging (0.05) | Stage II | Stage III | No |
| c.8912G > T | p.Gly2971Val | No | No | rs273585625 | Damaging (0.04) | Stage III | Stage II | No |
| c.9011_9025del TTCCCGGGAACACCC | p.Leu3004_Thr3008 del (in-frame deletion) | No | No | NA | NA | Stage III | Stage II | No |
| c.9047C > T | p.Thr3016Met | No | No | rs273585626 | Damaging (0.02) | Stage II | Stage I | No |
| c.11615C > T | p.Pro3872Leu | No | No | rs273585630 | Damaging (0.03) | Stage II | Stage III | No |
| Normal controls | ||||||||
| c.1701G > T | p.Gln567His | No | No | NA | Damaging | NA | NA | NA |
NA, not available or applicable.
aZNF469 Ensembl transcript ENST00000437464 or NCBI NM_001127464.1 (Build GRCh37/hg19).
bPositions with normalized probabilities of <0.05 are predicted to be damaging, those ≥0.05 are predicted to be tolerated.