Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary pattern*2 |
Reference |
M |
1090 |
1 |
C |
S364P |
5 |
TCA-CCA --> Ser-Pro at codon 364 |
heart malformations |
visceroatrial heterotaxia syndromes, asplenia syndrome |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
1090 |
1 |
C |
S364P |
1 |
TCA-CCA --> Ser-Pro at codon 364 |
heart malformations |
visceroatrial heterotaxia syndromes, polysplenia syndrome |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
1090 |
1 |
C |
S364P |
1 |
TCA-CCA --> Ser-Pro at codon 364 |
heart malformations |
visceroatrial heterotaxia syndromes, polysplenia syndrome |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
1055 |
1 |
G |
E352G |
1 |
GAA-GGA --> Glu-Gly at codon 352 |
heart malformations |
visceroatrial heterotaxia syndromes, asplenia syndrome |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
1055 |
1 |
G |
E352G |
1 |
GAA-GGA --> Glu-Gly at codon 352 |
heart malformations |
visceroatrial heterotaxia syndromes, atrial and bronchopulmonary isomerism and defects of laterality but had a single, small spleen |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
1117 |
1 |
G |
S373G |
1 |
AGC-GGC --> Ser-Gly at codon 373 |
heart malformations |
visceroatrial heterotaxia syndromes, polysplenia syndrome |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
1094 |
1 |
A |
S365N |
1 |
AGC-AAC --> Ser-Asn at codon 365 |
heart malformations |
visceroatrial heterotaxia syndromes, polysplenia syndrome |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |
M |
976 |
1 |
G |
T326A |
1 |
ACC-GCC --> Thr-Ala at codon 326 |
heart malformations |
visceroatrial heterotaxia syndromes, atrial and bronchopulmonary isomerism and defects of laterality but had a single, small spleen |
AR |
Britz-Cunningham, S. H. et al. New Eng J Med 332, 1323(1995). |