Table 2 The TAZ mutations of the 22 patients in the French Barth syndrome cohort
From: Natural history of Barth syndrome: a national cohort study of 22 patients
Location | Nucleotide sequence change | Protein effect | Type of mutation | Number of pedigrees | References |
|---|---|---|---|---|---|
Exons 1-5 | del exon 1-5 | Exon deletion | 1 | ||
Exon 2 | c.143delinsGG | p.Glu48fsX | Frame shift mutation | 1 | This report |
Exon 3 | c.280C > A | p.Arg94Ser | Missense mutation | 1 | [24] |
Exon 3 | c.281G > A | p.Arg94His | Missense mutation | 1 | [26] |
Exon 4 | c.356T > G | p.Val119Gly | Missense mutation | 1 | This report |
Exon 6 | c.478A > T | p.Lys160X | Nonsense mutation | 1 | [28] |
Exons 6-11 | del exon 6-11 | Exon deletions | 2 | [28] | |
Exon 8 | c.589G > A | p.Gly197Arg | Missense mutation | 1 | |
Exon 8 | c.589G > T | p.Gly197Trp | Missense mutation | 1 | [28] |
Exon 8 | c.646G > A | p.Gly216Arg | Missense mutation | 1 | [28] |
Exons 8-9 | del exon8-9 | Exon deletion | 1 | This report | |
Exon 9 | c.659_660dupGTCC | p.Leu221fsX | Frameshift mutation | 1 | This report |
Intron 9 | c.700-1G > A | p. ? | Splicing defect | 1 | [28] |
Intron 10 | c. 778-1G > T | p.? | Splicing defect | 1 | This report |
Undetermined mutation* | 1 | ||||
16 |