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Table 2 SFTPC and ABCA3 genetic analysis

From: A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

  SFTPC gene* SFTPC gene* ABCA3
c.413C > A (rs4715) c.557 G > A (rs1124) 2891 G > A
Exon 4 Exon 5 Exon 21
Proband CA AA AA
Mother CC GA GA
Father CA GA GA
Sister 1 CC GA GA
Sister 2 CA GA GA
Patient B CC GA AA
Patient C CC GA AA
  1. *Common non-synonymous SFTPC polymorphisms:C/A at rs4715 yields Thr138Asn; G/A at rs1124 yields Ser186Asn.