NEWSLETTER #50, November 20, 1992

_____________________________________________________________

1. Let me first apologize for not being able to publish a newsletter for the month of October, because I was away from my office for most of the time in the past 7 weeks.

2. Mutation reports:

Name           Amino acid change   Nucleotide change      Exon      Reference                    
                                                                                                 
Q220X          Gln->Stop at 220    C->T at 790            6a        S. Shackleton and A.         
                                                                    Harris (Sept 22); M.         
                                                                    Schwartz, L. Holmberg (Oct   
                                                                    20)                          
I566V          Ile->Val at 566     A->G at 1798           11        G. Ghanem, B. Costes, J.     
(correction)   (mutation?)                                          Martin, M. Goossens (Oct     
                                                                    12)                          
2603delT       Frameshift          deletion of T at       13        B. Exquieta, J. Molano       
                                   2603/4                           (Oct 20)                     
L88X           Leu->Stop at 88     T->G at 401            3         M. Macek, Jr., A. Mamosh,    
                                                                    G. Cutting (Oct 20)          
P99L           Pro->Leu at 99      C->T at 428            4         M. Schwartz, L. Holmberg     
                                                                    (Oct 20)                     
R31L           Arg->Leu at 31      G->T at 224            2         J. Zielenski, D.             
                                                                    Markiewicz, L-C Tsui (Oct    
                                                                    22)                          
1811+1G->C     Splice mutation     G->C at 1811+1         intron    L. Petreska, S. Koceva, G.   
                                                          11        Efremov (Oct 30)             
186-13C->G     Splice mutation     C->G at 186-13         intron 1  C. Ferec, I. Quere, M.       
               (?)                                                  Audrezet, C. Verlingue, H.   
                                                                    Guillermit, B. Mercier       
                                                                    (Nov 6)                      
G1069R         Gly->Arg at 1069    G->A at 3337           17b       C. Ferec, I. Quere, M.       
                                                                    Audrezet, C. Verlingue, H.   
                                                                    Guillermit, B. Mercier       
                                                                    (Nov 6)                      
1161delC       Frameshift          deletion of C at 1161  7         T. Parveen, M. Schwarz, G.   
                                                                    Malone, M. Super (Nov 8)     
Q30X           Gln->Stop at 30     C->T at 220            2         M. Chillon, V. Nunes, T.     
                                                                    Casals, X. Estivill (Nov     
                                                                    10)                          

3. DNA sequence polymorphisms/variations in the coding region

163 (G or A)          Val->Ile at aa 11          1       S. Shackleton, A. Harris   
                                                         (Sept 22)                  
1650 (C or G)         Ile->Met at 506            10      F. Chavelier, D. Bozon     
                                                         (Oct 24)                   
545 (T or C)          Leu->Pro at 138            4       T. Dörk, R. Fislage, B.    
                                                         Tümmler (Oct 25)           
3309 (A or G)         no change (Leu at 1059)    17b     C. Ferec, I. Quere, M.     
                                                         Audrezet, C. Verlingue,    
                                                         H. Guillermit, B.          
                                                         Mercier (Nov 6)            
3726 (G or T)         no change (Val at 1198)    19      M. Claustres, M.           
                                                         Laussel, G. Razakatsara    

3. Correction: The mutation reported by Ravnik-Glavac et al. in NL#46 (457TAT->G) is the same as 458delAT (Ferec et al., NL#46); please see letter from M. Ravnik-Glavac and D. Glavac (Oct 27).

Best regards,