Table 2 CFTR sequence changes found in individuals carrying missense alterations p.R74W, p.D1270N, or p.V201M
From: Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
Mutations | Haplotype | |||||||
|---|---|---|---|---|---|---|---|---|
IVS1 | IVS8 | IVS8 | IVS8 | 470 | IVS17B | IVS17B | ||
CA | CA | TGm | Tn | TA | CA | |||
CBAVD1 | p.R1066C | 22 | 16 | 11 | 7 | V | 30 | 13 |
[p.R74W;p.V201M;p.D1270N] | 22 | 16 | 11 | 7 | V | 31 | 13 | |
CBAVD2 | p.M952I | 26 | 17 | 10 | 7 | M | 7 | 17 |
[p.R74W;p.V201M;p.D1270N] | 22 | 16 | 11 | 7 | V | 31 | 13 | |
CBAVD3 | [p.R74W;p.V201M;p.D1270N] | 22 | 16 | 11 | 7 | V | 31 | 13 |
[p.R74W;p.V201M;p.D1270N] | 22 | 16 | 11 | 7 | V | 31 | 13 | |
Individual non affected with CF | ||||||||
No mutation | 21 | nd | 10 | 7 | M | 7 | 17 | |
[p.R74W;p.D1270N] | 22 | nd | 11 | 7 | V | 30 | 13 | |
Asymptomatic mother of a CF affected girl | ||||||||
p.P67L | 23 | 16 | 10 | 7 | M | 7 | 17 | |
[p.R74;p.D1270N] | 22 | 16 | 11 | 7 | V | 31 | 13 | |