Novel AIP mutations not previously reported. gnomAD: http://gnomad.broadinstitute.org/
| AIP mutation | MAF in gnomAD | Variant type | In silico prediction* | Probability score† | Gender | Familial versus simplex | Diagnosis‡ | Age at diagnosis | Age at onset |
| c.240_241delinsTG (p.M80_R81delinsIG) | Not reported | Insertion deletion | High | Disease causing 1 | M | Simplex | Gigantism | 8 | 5 |
| c.333delC (p.K112Rfs*44) | Not reported | Frameshift | High | Disease causing 1 | F | Simplex | Gigantism | 9 | 7 |
| c.376_377delCA (p.Q126Dfs*3) | Not reported | Frameshift | High | Disease causing 1 | F | Simplex | Gigantism | 13 | 10 |
| c.605A>G (p.Y202C) § | Not reported | Missense | High | Disease causing 0.99 | M | Simplex | Gigantism | 10 | 10 |
| c.645+1G>C (p.?) | Not reported | Splicing | High | Disease causing 1 | M | Simplex | Acromegaly | 33 | 24 |
| c.991T>C (p.331Rext91) | Not reported | Missense | High | Polymorphism 0.99 | M | Simplex | Gigantism | 16 | 12 |
↵*In silico prediction of probability of damaging mutation by Variant Effect Predictor and Anovar.
↵†Probability of pathogenic mutation by Mutation Taster.
↵‡All patients had macroadenoma, and none of them presented with pituitary apoplexy.
↵§This missense variant affects position 22 in the first tetratricopeptide domain of AIP, a well-conserved position in various tetratricopeptide domain proteins.32 38
AIP, aryl hydrocarbon receptor-interacting protein; MAF, minor allele frequency.