Summary of single nucleotide polymorphisms (SNPs) found by genetic sequencing of the SFTPC gene
| Site of SNP | BP* with change | Nucleotide change | Predicted amino acid change | Predicted ESE change | No of patients with SNP | UIP 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′ UTR | 4702 | GG to GC | 1 | NSIP | ||
| Exon 1 | 4859 | CC to CG | Val8Val | 1 | UIP | |
| Exon 1 | 4877 | GG to GA | Pro14Pro | 1 | UIP | |
| Intron 1 | 5089 | GG to GA | 2 | UIP (1), NSIP (1) | ||
| Intron 1 | 5210 | CC to CA | 1 | UIP | ||
| Intron 1 | 5236‡ | GG to GA† | 1 | UIP | ||
| Intron 1 | 5574‡ | GG to GA | Potential splicing enhancer | 1 | UIP | |
| Intron 2 | 5786 | AA to CC | 1 | UIP | ||
| Exon 3 | 6108 | TT to TC | Ile73Thr | 1 | UIP | |
| Intron 4 | 6699 | CC to TT | 4 | UIP (3), NSIP (1) | ||