Table 1. New COLEC11 and MASP1/3 mutations in 3MC patient cohort.
| Family | Subject | Diagnosis | Origin | Mutated gene | Nucleotide change | Protein change | Control chromosomes allele frequency |
|---|---|---|---|---|---|---|---|
| MC29 | 29.1 | Carnevale | United Arab Emirates | COLEC11 | HMZ 89_98delATGACGCCTG | p.Asp30Ala*fs68 | Not in ExAc |
| MC35 | 35.1 | Carnevale | Pakistan | COLEC11 | HMZ c.309delT | p.Gly104Valfs*29 | Not in ExAc |
| MC37 | 37.1 | Carnevale | Somalia | COLEC11 | HMZ c.G496A | p.Ala166Thr (Polyphen damaging) | Not in ExAc |
| MC27 | 27.1 | Carnevale | Pakistan | MASP1/3 | HMZ c.9G>A | p. Trp3Ter | 0.000008389 |