Table 1 of
Yu, Mol Vis 2017; 23:296-304. Table 1 of
Yu, Mol Vis 2017; 23:296-304.
Table 1. All ZNF469 sequence variants identified in KC patients.
| Nucleotide change | Amino acid change | SNP ID | Frequency (1KG Project) | Position | Gene region | Mutation effect | SIFT score |
|---|---|---|---|---|---|---|---|
| c.1370C>A | p.A457D | 88,495,248 | Exon | nonsynonymou | 0.02 | ||
| c.1471G>A | p.A491T | rs117555121 | 0.00998403 | 88,495,349 | Exon | nonsynonymou | 0.01 |
| c.2059G>A | p.E687K | 88,495,937 | Exon | nonsynonymou | 0.02 | ||
| c.2137C>A | p.P713T | 88,496,015 | Exon | nonsynonymou | 0.02 | ||
| c.2653C>G | p.L885V | rs139653501 | 0.00459265 | 88,496,531 | Exon | nonsynonymou | 0 |
| c.3466G>A | p.A1156T | 88,497,428 | Exon | nonsynonymou | 0 | ||
| c.3749C>T | p.P1250L | 88,497,711 | Exon | nonsynonymou | 0 | ||
| c.4300G>A | p.D1434N | 0.000199681 | 88,498,262 | Exon | nonsynonymou | 0 | |
| c.4684G>A | p.E1562K | 88,498,646 | Exon | nonsynonymou | 0 | ||
| c.7262G>A | p.R2421H | 0.00119808 | 88,501,224 | Exon | nonsynonymou | 0 | |
| c.10048G>C | p.G3350R | rs192272765 | 0.000599042 | 88,504,010 | Exon | nonsynonymou | 0.05 |
| c.10633G>A | p.G3545R | rs183149417 | 0.00179712 | 88,504,595 | Exon | nonsynonymou | 0.11 |
| c.946G>A | p.E316K | 0.00599042 | 88,494,824 | Exon | nonsynonymou | 0 | |
| c.2803G>A | p.E935K | rs117995699 | 0.00638978 | 88,496,681 | Exon | nonsynonymou | 0 |
| c.10244G>A | p.G3415E | 0.000998403 | 88,504,206 | Exon | nonsynonymou | 0.01 | |
| c.2945G>A | p.R982K | 0.000998403 | 88,496,823 | Exon | nonsynonymou | 0 |