MUC5B mutations in individuals of European descent
| Gene | Mutation | Amino acid prediction | IPF (n=119) (n (MAF)) | COPD (n=178) (n (MAF)) | ESP (ED) (MAF), % | dbSNP number |
|---|---|---|---|---|---|---|
| MUC5B | c.356G>A | R119H | 0 | 2 (0.6%) | 0.03 | rs199733278 |
| c.1520C>T | T507M | 1 (0.4%) | 0 | 0.09 | rs201605309 | |
| c.1855C>T | R619W | 2 (0.8%) | 2 (0.5%) | 0.38 | rs56411917 | |
| c.1994C>T | *A665V | 1 (0.4%) | 0 | |||
| c.14896G>A | G4966S | 0 | 3 (0.8%) | 0.3 | rs56217440 | |
| Collapsed freq | 1.7% | 2.0% |
*Novel mutation.
ED, European descent; IPF, idiopathic pulmonary fibrosis; MAF, minor allele frequency.