Table 2.
Putative Pathogenic Variants in SON
| Subject 1 | Subject 2 | Subject 3 | Subject 4 | Subject 5 | Subject 6 | Subject 7a | Subject 7a | |
|---|---|---|---|---|---|---|---|---|
| DNA variant | c.5753_5756delTTAG | c.6233delC | c.3852_3856delGGTAT | c.286C>T | c.5753_5756delTTAG | c.3073dupA | c.4909A>T | c.5528C>A |
| Protein change | p.Val1918Glufs∗87 | p.Pro2078Hisfs∗4 | p.Met1284Ilefs∗2 | p.Gln96∗ | p.Val1918Glufs∗87 | p.Met1025Asnfs∗6 | p.Thr1637Ser | p.Ser1843Tyr |
| Inheritance | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo |
| ExAC Browser | novel | novel | novel | novel | novel | novel | novel | novel |
| SIFT | – | – | – | – | – | – | deleterious | deleterious |
| PolyPhen-2 | – | – | – | – | – | – | benign | damaging |
| CADD | – | – | – | – | – | – | 15.19 | 15.67 |
Variant nomenclature is based on GenBank: NM_138927.2.
a
These variants are in cis configuration, and both are confirmed de novo changes.