Table 2 |
||||||||
|
CFTR sequence changes found in individuals carrying missense alterations p.R74W, p.D1270N, or p.V201M |
||||||||
|
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 |
|
|
|
||||||||
|
Claustres et al. BMC Medical Genetics 2004 5:19 doi:10.1186/1471-2350-5-19 |
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