Table 2 sSNPs selected as significant by at least 2 independent analysis types (RSCU, mRNA structure and CADD)
From: Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator
sSNP | CFTR domain | RSCU | mRNA structure | CADD |
|---|---|---|---|---|
c.612 T > G (A204) | MSD1 (helix 3) | + | + | − |
c.3345C > A (T1115) | MSD2 (helix 5′) | − | + | + |
c.3472C > A (R1158) | MSD2/NBD2 | + | + | + |
c.3504C > T (D1168) | MSD2/NBD2 | − | + | + |