Table 3 Non-synonymous sequence variants
NucleotideAmino acidObs (n)PatientFamily history of CHDMotherFatherConserved in mouse and ratSIFTPoly-PhenOther congenital anomalies
c.278G→CGly93Ala12° ASDNoCarrierNAYesTB
c.946C→GGln316Glu12° ASDUnknownNANAYesNTPD+
c.1273G→AAsp425Asn22° ASDNoCarrierNoYesNTPD
  • 2° ASD, secundum atreial septal defect; AA, amino acid; B, benign; NA, not available; NT, not tolerated; Obs, observations; PD, possibly damaging; PolyPhen, prediction of functional effect of human non-synonymous single nucleotide polymorphisms; SIFT, Sorting Intolerant From Tolerant; T, tolerated; TOF, tetralogy of Fallot with pulmonary valve stenosis; VSD, perimembranous ventral septal defect.

  • *Previously observed in a patient with cardiac hypertrophy.20

  • †See Results section for details.