TABLE II:
DDX11 gene variants currently reported.
| Ref Seq ID | Exon | Codon | Protein | Predicted effect | Domain | SIFT† | Mutation Taster‡ | Mutation Assessor§ | PolyPhen-2¶ | CADD_PhredϪ, % | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | NM_030653.3 | Exon 5 | c.606delC | p.Tyr202* | frameshift | Helicase core | NA | Disease causing | NA | NA | NA |
| Patient 1 | NM_030653.3 | Exon 23 | c.2372G>A | p.Arg791Gln | missense | Helicase motif V | Deleterious (0.02) | Disease causing | High | Probably damaging (0.937) | 33 |
| Patient 2 | NM_030653.3 | Exon 10 | c.1133G>C | p.Arg378Pro | missense | Helicase core | Deleterious (0) | Disease causing | High | Probably damaging (0.997) | 25.1 |
| Patient 3 and 4 | NM_030653.3 | Exon 26 | c.2576T>G | p.Val859Gly | missense | Helicase motif V | Deleterious (0.01) | Disease causing | Medium | Benign (0) | 22.5 |
| Patient 5 | NM_030653.3 | Exon 26 | c.2638dupG | p.Ala880Glyfs*94 | frameshift | Helicase motif V | NA | Disease causing | NA | NA | NA |
| Van der Lelij et al., 2010 | NM_030653.3 | Intron 22 | c.2271+2T>C (IVS22+2T>C) | p.Cys754Profs*9 | frameshift | Helicase core | NA | Disease causing | NA | NA | 21.7 |
| Van der Lelij et al., 2010 | NM_030653.3 | Exon 26 | c.2689_2691del | p.Lys897del | in frame deletion | C-terminal | NA | Disease causing | NA | NA | NA |
| Capo-Chichi et al., 2013 | NM_030653.3 | Exon 7 | c.788G>A | p.Arg263Gln | missense | Fe-S cluster | Deleterious (0) | Disease causing | High | Probably damaging (1) | 28.4 |
| Bailey et al., 2015 | NM_030653.3 | Intron 5 | c.638+1G>A | Splice site | Helicase core | NA | Disease causing | NA | NA | 22.7 | |
| Bailey et al., 2015 | NM_030653.3 | Exon 19 | c.1888delC | p.Arg630Glyfs*23 | frameshift | Helicase core | NA | Disease causing | NA | NA | NA |
| Eppley et al., 2017 | NM_030653.3 | Intron 19 | c.1949-1G>A (IVS19-1G>A) | Splice site | Helicase core | NA | Disease causing | NA | NA | 25 | |
| Eppley et al., 2017 | NM_030653.3 | Exon 16 | c.1523T>G | p.Leu508Arg | missense | Helicase core | Deleterious (0) | Disease causing | Medium | Probably damaging (0.999) | 24.3 |
%
CADD scoring: ≥ 10 indicates the top 10% most deleterious substitutions in the human genome, ≥ 20 indicates the top 1% most deleterious, ≥ 30 indicates the top 0.1% most deleterious.