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. |