Table 2

 Summary of single nucleotide polymorphisms (SNPs) found by genetic sequencing of the SFTPC gene

Site of SNPBP* with changeNucleotide changePredicted amino acid changePredicted ESE changeNo of patients with SNPUIP v NSIP
*Base pair (BP) numbering is directly from GenBank accession #AY337315.1.
†SNP previously reported as documented in GenBank accession #AY337315.1.
‡These two sequence variations were in the same patient.
5′ UTR4702GG to GC1NSIP
Exon 14859CC to CGVal8Val1UIP
Exon 14877GG to GAPro14Pro1UIP
Intron 15089GG to GA2UIP (1), NSIP (1)
Intron 15210CC to CA1UIP
Intron 15236‡GG to GA†1UIP
Intron 15574‡GG to GAPotential splicing enhancer1UIP
Intron 25786AA to CC1UIP
Exon 36108TT to TCIle73Thr1UIP
Intron 46699CC to TT4UIP (3), NSIP (1)