Table 3 Missense variants found in this study by direct sequence analysis
Base changeAmino acid changeExonFrequencyConservationDNA variation
ControlPCD
c.1108A>Tp.I370F90/1701/178YesNovel mutation
c.1619T>Cp.F540L120/1601/178YesNovel mutation
c.1645A>Gp.N549D130/1701/178YesNovel mutation
c.1667A>Gp.D556G130/1601/178YesNovel mutation
c.2253C>Ap.N751K152/1704/178YesNew SNP
c.5146C>Tp.R1716W320/1801/178YesNovel mutation
c.7888A>Tp.R2630W480/1701/178YesNovel mutation
c.8485G>Tp.V2829F510/1601/178YesNovel mutation
c.8497C>Gp.R2833G510/1701/178YesNovel mutation
c.10365G>Cp.Q3455H610/1662/178YesNovel mutation
c.10615C>Tp.R3539C630/1701/178YesNovel mutation

  • PCD, primary ciliary dyskinesia; SNP, single nucleotide polymorphism.