Table 1 sSNPs selected significant change in local codon bias motifs analyzed for 3-, 5- and 10-aa clusters
From: Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator
sSNP | CFTR domain | Impact on CFTR translation | Significant RSCU change when analyzed in | ||
|---|---|---|---|---|---|
3 aa | 5 aa | 10 aa | |||
c.333G > A (P111) | MSD1 (EL1) | ↑ | − | + | + |
c.612 T > G (A204) | MSD1 (helix 3) | ↓ | + | − | + |
c.888 T > C (T296) | MSD1 (CL2) | ↓ | + | + | − |
c.981A > G (L327) | MSD1 (helix 5) | ↑ | + | − | + |
c.1074A > G (V358) | MSD1/NBD1 | ↑ | + | + | − |
c.1098A > G (G366) | MSD1/NBD1 | ↓ | + | + | + |
c.1164G > T (T388) | MSD1/NBD1 | ↑ | + | + | − |
c.1641A > T (T547) | NBD1 | ↓ | + | + | + |
c.1734A > G (L578) | NBD1 | ↑ | + | − | + |
c.2241G > A (A747) | R | ↑ | − | + | + |
c.2373A > G (T791) | R | ↓ | + | − | + |
c.2805A > G (L935) | MSD2 (CL3) | ↑ | + | + | − |
c.2907A > G (A969) | MSD2 (CL3) | ↓ | + | + | − |
c.3472C > A (R1158) | MSD2/NBD2 | ↑ | + | + | + |
c.3772 T > C (L1258) | NBD2 | ↑ | + | + | + |
c.3780A > G (L1260) | NBD2 | ↑ | − | + | + |
c.3789 T > C (T1263) | NBD2 | ↓ | + | + | + |
c.3897A > G (T1299) | NBD2 | ↓ | + | + | − |