Table 2.
Description of the identified DNMs in proband SZ-HU-PROB
| Genomic position | 1:70505093G>A | 19:6416869C>A | 19:55286658A>T |
|---|---|---|---|
| Gene | LRRC7 | KHSRP | KIR2DL1 |
| Variation type | Missense | Missense | Missense |
| Amino acid change | Val1158Ile | Gly403Cys | Thr138Ser |
| Conservation of nucleotide | Weak | High | Not conserved |
| Conservation of amino acid | High | Moderate | Weak |
| SIFT | Tolerated (score 0.37, median 4.32) | Deleterious (score 0.03, median 3.54) | Tolerated (score 0.73, median 3.01) |
| Mutation taster | Polymorphism (p value 0.999) | Disease causing (p value 0.996) | Polymorphism (p value 1) |