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