Home
Sample Submission
Mutation Database
FAQs
Photo Album
Links
Contact Us
 
   Sino-Pulmonary Findings
Mutation 1 Mutation 2 FEV (%) FVC (%) Chest X ray results Bronchodilators? Asthma? Pseudomonas infection +? Age at 1st Pseudomonas infection (years) Other infections Nasal Polyps? Siniusitis? Sinus Surgery? Back to Main Database
delF508 P67L 65 87 bronchiectasis Yes   Yes 41 none Yes Yes x2 Back
delF508 D110H 77 82 bronchiectasis   No No   none No No none Back
delF508 R117C     not done No No No   none No No none Back
delF508 R117C 93 91 normal   No No   none No No none  
delF508 R117L 74 90 bronchiectasis Yes Yes No   ABPA; MRSA No No none Back
delF508 P205S     normal Yes No No   Staph Auress; RSV No No none Back
delF508 L206W     not done No No No   unknown No No none Back
delF508 I336K 43 58 bronchiectasis and infiltrates Yes Yes Yes ? unknown No No none Back
delF508 R352Q     infiltrates Yes   Yes 11 none No No none Back
delF508 5T/12TG     not done Yes No No   none No No none Back
delF508 5T/13TG 129 132 not done No   No   none No No none  
delF508 5T/12TG 95 114 not done Yes   No   none No Yes none  
delF508 5T/12TG     normal No   No   none No No none  
delF508 D579G 107 113 normal Yes Yes No   none No Yes none Back
delF508 T582S 99 105 normal No No No   none No No none Back
Mutation 1 Mutation 2 FEV (%) FVC (%) Chest X ray results Bronchodilators? Asthma? Pseudomonas infection +? Age at 1st Pseudomonas infection (years) Other infections Nasal Polyps? Siniusitis? Sinus Surgery? Back to Main Database
delF508 Nt2789+2insA 93 98 normal Yes   Yes 24 none Yes Yes yes Back
delF508 Nt2789+2insA     not done No No No   none No No none  
delF508 Nt2789+5G>A 31 56 normal Yes No Yes 41 none Yes No none Back
delF508 Nt2811G>T 94 110 bronchiectasis, infiltrates Yes Yes Yes unknown aspergillus-ABPA Yes Yes unknown Back
delF508 V920M 62 67 considering elective right pneumonectomy Yes No No   staph aureus; H.flu, MAC Noo No none Back
delF508 D993A     normal Yes   No   none No No none Back
delF508 L967S 52 60 normal     No   staph, aspergillis (not ABPA) No Yes multiple Back
delF508 Q996Q 74 84 bronchiectasis, infiltrates Yes No Yes 25 aspergillus No No none Back
delF508 L997F     not done   No No   none No No none Back
delF508 I1027T 39 60 abnormal Yes No Yes <29 unknown No No none Back
delF508 T1053I 88 84 bronchiectasis, infiltrates Yes No Yes 26 none No No none Back
delF508 Nt3600+1G>A nl nl upper lobe bronchiectasis; bilateral   Yes Yes 57 MAI Yes Yes x1 Back
delF508 R1070W 110 107 normal No No No   none No No none Back
delF508 S1118F 93 94 normal Yes No No   none No No none Back
delF508 D1152H 43 75 bronchiectasis, blebs Yes No Yes 42 aspergillus No No none Back
delF508 D1152H 97 110 normal Yes No Mucoid 22 none Yes Yes none  
delF508 D1152H 32 37 bronchiectasis, infiltrates Yes Yes Yes 20 MAC No No none  
delF508 Q1291H 66 78 bilateral bronchiectasis; bilateral infiltrates Yes Yes No   ABPA No No none Back
delF508 Q1291H 86 89 infiltrates Yes Yes No   unknown No No none  
Mutation 1 Mutation 2 FEV (%) FVC (%) Chest X ray results Bronchodilators? Asthma? Pseudomonas infection +? Age at 1st Pseudomonas infection (years) Other infections Nasal Polyps? Siniusitis? Sinus Surgery? Back to Main Database
300delA Nt2621+1G>A 59.2 87.4 bronchiectasis, infiltrates Yes Yes Yes ? none No Yes none Back
P67L R347P 83 87 normal Yes Yes No   staph aureus No Yes x2 Back
G85E F191V     not done No No Yes 0.6 none No No none Back
R117H Nt2185insA 26 27 bronchiectasis Yes No Yes 59 none No No none Back
R117H G103X 75 81 normal No No No   none Yes Yes x1 Back
L138ins Nt3272-26A>G 104 96 normal No   No   none Yes Yes x1 Back
Nt909delT Nt3272-26A>G 43 59 bronchiectasis, infiltrates Yes   Yes 25 Yes Yes Yes none Back
5T/12TG G463D 119 109 normal No No No   none No Yes none Back
5T/12TG F693L 57.5 68.9 normal Yes Yes No   none No No none Back
5T/13TG Nt2185insA     minimal thickening of central airways No No No   none No Yes x2 Back
Mutation 1 Mutation 2 FEV (%) FVC (%) Chest X ray results Bronchodilators? Asthma? Pseudomonas infection +? Age at 1st Pseudomonas infection (years) Other infections Nasal Polyps? Siniusitis? Sinus Surgery? Back to Main Database
delI507 R117C 178 98 normal Yes No No   none No Yes none Back
delI507 R117C     not done No No No   none No Yes none  
G542X R1162L 70 88 peribronchial cuffing; no atalectasis Yes   No   none No No none Back
Nt2789+5G>A L1007P 73 81 bronchiectasis, infiltrates Yes Yes Yes 33 none No Yes none Back
Nt3272-26A>G Nt3272-26A>G 75.6 82 bronchiectasis Yes Yes No   staph aureus Yes Yes x6 Back
Nt3272-26A>G Nt3272-26A>G 102 92 normal Yes Yes No   staph aureus No No none  
A1067V S1235R     infiltrates Yes Yes No   none No Yes none Back
D1152H W1282X 93 98 bronchiectasis Yes   No   none No No none Back
Nt3600+2insT Nt3272-26A>G 98 120 not done No No No   none Yes Yes yes Back
Nt3849+10kbC>T Nt3849+10kbC>T 57 73 bronchiectasis, infiltrates Yes   Yes ? none No No none Back

 

   
 
Send mail to bkarczeski@jhmi.edu with questions or comments about this web site.
Copyright 2000 Cystic Fibrosis Foundation Genotyping Center
Last modified: February 27, 2000