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NEWSLETTER #51, December 23, 1992

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1. Mutation reports:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
                                                                                                 
L88X           Leu->Stop at 88     T->G at 395            3         M. Macek, Jr., A. Mamosh,    
(correction)                                                        G. Cutting (NL#50)           
L88S           Leu->Ser at 88      T->C at 395            3         G. Malone, M. Schwarz, M.    
                                                                    Super (Nov 10)               
S977P          Ser->Pro at 977     T->C at 3061           16        T. Dörk, J. Bosshammer, B.   
                                                                    Tümmler (Nov 23)             
3100insA       frameshift          A insertion after      16        T. Dörk, J. Bosshammer, B.   
                                   3100                             Tümmler (Nov 23)             
2184delA'      frameshift          deletion of A at       13        F. Chevalier, D. Bozon       
                                   2184 without A->G at             (Dec 2) T. Dörk, J.          
                                   2183                             Bosshammer, F. Mekus, B.     
                                                                    Tümmler (Dec 16)             
2372del8       frameshift          deletion of 8 bp       13        F. Chevalier, D. Bozon       
                                   from 2372                        (Dec 2)                      
P205S          Pro->Ser at 205     C->T at 745            6a        M. Chillon, V. Nunes, T.     
                                                                    Casals, X. Estivill (Dec 3)  
621+2T->G      splice mutation     T->G at 621+2          intron 4  M. Claustres, M. Laussel,    
                                                                    G. Razakatsara (Dec 7)       
1918delGC      frameshift          deletion of GC from    13        F. Chevalier, D. Bozon       
                                   1918                             (Dec 2)                      
2118del4       frameshift          deletion of AACT       13        F. Chevalier, D. Bozon       
                                   from 2118                        (Dec 2)                      
G673X          Gly->Stop at 673    G->T at 2149           13        T. Dörk, J. Bosshammer, F.   
                                                                    Mekus, B. Tümmler (Dec 16)   
L165S          Leu->Ser at 165     T->C at 626            5         C. Ferec, I. Quere, M.       
                                                                    Audrezet, C. Verlingue, H.   
                                                                    Guillermit, B. Mercier       
                                                                    (Dec 23)                     
E831X          Glu->Stop at 831    G->T at 2623           14a       C. Ferec, I. Quere, M.       
                                                                    Audrezet, C. Verlingue, H.   
                                                                    Guillermit, B. Mercier       
                                                                    (Dec 23)                     

2. DNA sequence polymorphisms/variations in the coding region

1096 (G or A)         Val->Met at aa 322         7       C. Ferec, I. Quere, M.     
                                                         Audrezet, C. Verlingue,    
                                                         H. Guillermit, B.          
                                                         Mercier (Dec 23)           

3. A CF mutation table is attached. In order to keep an useful reference list, please send me any updates of published reports.

Merry Christmas and Happy New Year!

Best wishes,