Table 2 Summary of PITX2 sequence variations in the dTGA study cohort
patients (n = 96) | controls | |||
|---|---|---|---|---|
type of variation: | specific variation | variant frequency (%) | number of controls | frequency (%) |
intronic/UTR variations: | 2–40T>C (5'UTR exon 2) 2–18T>C (5'UTR exon 2) IVS2+7A>G (intron 2) IVS2-106C>A (intron 2) IVS3+11G>T (intron 3) IVS4a+11G (intron 4a) IVS4a-62C>A (intron 4a) | 10 (10.4%) 0 (0%) 1 (1.04%) 17 (17.7%) 1 (1.04%) 30 (31,25%) 1 (1.04%) | 100 100 100 100 100 100 100 | 12 (12%) 1 (1%) 0 (0%) 20 (20%) 0 (0%) 39 (39%) 0 (0%) |
silent mutations: | 30G>C (S10S) (exon 2) 63C>T (A21A) (exon 4b) | 1 (1.04%) 1 (1.04%) | 100 100 | 0 (0%) 2 (2%) |
polymorphism within coding region: | 30C>T (S27F) (exon 3) 204C>A (P65T) (exon 4b) | 0 (0%) 96 (100%) | 100 100 | 1 (1%) 100 (100%) |