From: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Patient number | Variant | Location | SNP | SIFT/polyphene |
---|---|---|---|---|
1, 2, 3 | Negative | Â | Â | Â |
4 | c.42+35G>A (IVS1+35G>A) | Intron 1 | rs8192340 | Benign |
5, 6, 7, 8, 9, 10 | c.43-21T>C (IVS1-21T>C) | Intron 1 | rs13248346 | Benign |
11 | c.436-8C>G (IVS4-8C>G) | Intron 4 | rs2070687 | Benign |
12, 13, 14, 15, 16 | c.413 C>A (p.T138N) | Exon 4 | rs4715 | Possibly damaging |
17, 18, 19, 20 | c.557G>A (p.S186N) | Exon 5 | rs1124 | Benign |