Table 1.
De Novo TRRAP Variants Identified in 24 Individuals
| cDNA | Protein | Inheritance | CpG | gnomAD | CADD Phred Score (v1.3) | SIFT | PolyPhen2 HVAR | Number of Individuals |
|---|---|---|---|---|---|---|---|---|
| c.2413C>T | p.Leu805Phe | de novo | no | absent | 28.2 | deleterious (0) | probably damaging (0.998) | 1 |
| c.2580C>G | p.Phe860Leu | de novo | no | absent | 27.6 | deleterious (0.03) | possibly damaging (0.867) | 1 |
| c.2678G>T | p.Arg893Leu | apparently de novo | yes | absent | 34 | deleterious (0) | probably damaging (0.986) | 1 |
| c.3093T>G | p.Ile1031Met | de novo | no | absent | 23.4 | deleterious (0.02) | benign (0.308) | 1 |
| c.3104G>A | p.Arg1035Gln | de novo | yes | absent | 23.9 | tolerated (0.09) | benign (0.404) | 1 |
| c.3111C>A | p.Ser1037Arg | de novo | yes | absent | 23.7 | tolerated (0.14) | possibly damaging (0.656) | 1 |
| c.3127G>A | p.Ala1043Thr | de novo | yes | absent | 23.2 | tolerated (0.27) | benign (0.066) | 5 |
| c.3311A>G | p.Glu1104Gly | de novo | no | absent | 24.6 | deleterious (0.04) | probably damaging (0.91) | 1 |
| c.3316G>A | p.Glu1106Lys | de novoa | no | absent | 27.7 | deleterious (0) | possibly damaging (0.816) | 2 |
| c.3331G>T | p.Gly1111Trp | apparently de novo | yes | absent | 34 | deleterious (0) | probably damaging (0.999) | 1 |
| c.3475G>A | p.Gly1159Arg | de novo | no | absent | 33 | deleterious (0) | probably damaging (0.999) | 1 |
| c.5575C>T | p.Arg1859Cys | de novo | yes | absent | 34 | deleterious (0) | probably damaging (0.997) | 1 |
| c.5596T>A | p.Trp1866Arg | de novo | no | absent | 28.7 | deleterious (0) | probably damaging (0.999) | 1 |
| c.5598G>T | p.Trp1866Cys | de novo | no | absent | 33 | deleterious (0) | probably damaging (0.999) | 1 |
| c.5647G>A | p.Gly1883Arg | de novo | yes | absent | 33 | deleterious (0) | probably damaging (1) | 2 |
| c.5795C>T | p.Pro1932Leu | germline mosaicism | yes | absent | 35 | deleterious (0) | probably damaging (0.997) | 2 |
| c.11270G>A | p.Arg3757Gln | de novo | yes | absent | 28.6 | deleterious (0.01) | benign (0.269) | 1 |
The RefSeq transcript used for TRRAP is RefSeq: NM_001244580.1. Apparently de novo was mentioned when paternity and maternity were not checked. a. For one individual with p.(Glu1106Lys), father was unavailable, paternal grandparents were tested and did not carry the variant.