Table 1.
Ancestry and sequence alterations in IFIH1 mutation-positive families
| Family | Ancestry | Inheritance | Nucleotide alteration |
Exon | Amino acid alteration |
Domain | EVS† allele frequency |
|---|---|---|---|---|---|---|---|
| F102 | European Italian | de novo | c.2159G>A | 11 | p.Arg720Gln | Hel 2 | 0/13006 |
| F163 | European French | de novo | c.2336G>A | 12 | p.Arg779His | Hel 2 | 0/13006 |
| F237 | White American | de novo | c.1009A>G | 5 | p.Arg337Gly | Hel 1 | 0/13006 |
| F259 | European Italian | Inherited* | c.2336G>A | 12 | p.Arg779His | Hel 2 | 0/13006 |
| F376 | White British | n/a | c.2335C>T | 12 | p.Arg779Cys | Hel 2 | 0/13006 |
| F524 | White British | de novo ** | c.1483G>A | 7 | p.Gly495Arg | Hel 1 | 0/13006 |
| F626 | European Italian | de novo | c.1178A>T | 6 | p.Asp393Val | Hel 1 | 0/13006 |
| F647 | Mixed white Irish / Ukranian | de novo | c.2159G>A | 11 | p.Arg720Gln | Hel 2 | 0/13006 |
*
Mutation in affected child inherited from mutation-positive clinically asymptomatic father. The proband’s paternal grandmother also carries the mutation and is clinically asymptomatic. All three mutation-positive individuals demonstrate a robust interferon signature
**
Mutation occurred de novo in affected male, who has then transmitted mutation to his affected daughter
n/a not available
†
Exome Variant Server (http://evs.gs.washington.edu/EVS/)