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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