Mutation data of the GJA1 gene in heart malformations

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).

*1 Abbreviations are as follows: M, Missense.
*2 Abbreviations are as follows: AR, Autosomal Recessive.







Last updated 27 March 1999