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Table 2 Summary of PITX2 sequence variations in the dTGA study cohort

From: Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)

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%)
  1. UTR: untranslated region