Mutation data of the CSX gene in congenital heart disease

*Mutation type^1**	Mutation position	Length of affected nucleotides	Nucleotide sequence after mutation	Mutation name	Case #	Consequence	Disease	Symptom	*Hereditary pattern^2**	Reference
M	533	1	T	T178M	2	ACG-ATG --> Thr-Met at codon 178	congenital heart disease, non syndromic	atrial septal defect associated with atrioventricular conduction defects	AD	Schott, J. et al. (1998) Science 281, 108.
N	508	1	T	Q170X	1	CAG-TAG --> Gln-Stop at codon 170	congenital heart disease, non syndromic	atrial septal defect associated with atrioventricular conduction defects	AD	Schott, J. et al. (1998) Science 281, 108.
N	592	1	T	Q198X	1	CAG-TAG --> Gln-Stop at codon 198	congenital heart disease, non syndromic	atrial septal defect associated with atrioventricular conduction defects	AD	Schott, J. et al. (1998) Science 281, 108.

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: AD, Autosomal Dominant.

Last updated 27 March 1999