NEWSLETTER #54, April 4, 1993
1. Mutation reports:
Name Amino acid change Nucleotide change Exon Reference 2790-1G->C splice mutation G->C at 2790-1 intron14 M. Schwartz, A-L Palle, G. b Vedel, P. Larsen (Mar 1) T338I Thr->Ile at 338 C->T at 1145 7 G.B. Leoni, M.C. Rosatelli, L. Saba, A. Meloni, A. Cao (Mar 1) 406-6T->C splice mutation T->C at 406-6 intron 3 M. Claustres, M. Giansily, (?) M. Laussel, G. Razakatzara (Mar 8) M152V Met->Val at 152 A->G at 586 4 E. Edkins, R. Creegan (Mar (mutation?) 9) 3849+1G->A splice mutation G->A at 3849+1 intron I. Greil, K. Wagner, W. 19 Rosenkranz (Mar 15) P67L Pro->Leu at 67 C->T at 332 3 A. Hamosh, M. Macek, S. Kiesewetter, C. Davis, G.R. Cutting (Mar 17) 405+3A->C splice mutation A->C at 405+3 intron 3 Hamosh et al., as above (?) (Mar 17) G330X Gly->Stop at 330 G->T at 1120 7 Hamosh et al., as above (Mar 17) S364P Ser->Pro at 364 T->C at 1222 7 Hamosh et al., as above (Mar 17) Y563D Tyr->Asp at 563 T->G at 1819 12 Hamosh et al., as above (Mar 17) R560S Arg->Ser at 560 A->C at 1812 12 B. Costes, L. Auloge, N. Ghanem, M. Goossens (Mar 22) 405+4A->G splice mutation A->G at 405+4 intron 3 Costes et al. as above (?) (Mar 22) V569X Tyr->Stop at 569 T->A at 1839 12 C. Férec, I. Quere, M.P. Audrezet, C. Verlingue, O. Raguenes, H. Guillermit, B. Mercier (Mar 23) H939D His->Asp at 939 C->G at 2947 15 Férec et al. as above (Mar 23) Y919C Tyr->Cys at 919 A->G at 2888 15 L. Kalaydjieva, A. Savov, D. Angelitcheva, C. Férec, I. Quere, M.P. Audrezet, B. Mercier (Mar 23) 1898+3A->C splice mutation A->C at 1898+3 intron W. Lissens, M. Bonduelle, (?) 12 I. Liebaers, C. Férec, I. Quere, M.P. Audrezet, B. Mercier (Mar 23 ) R1283K Arg->Lys at 1283 G->A at 3980 20 F. Chevalier, D. Bozon (Mar 25) 1342-2A->C splice mutation A->C at 1342-2 intron 8 T. Dörk, R. Fislage, B. Tümmler (Mar 27)
2. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference 4356 (G or A) Leu at 1408 (no change) 23 Costes et al. as above (Mar 22) 1572 (T or C) Gly at 480 (no change) 10 Ferec et al. as above (Mar 23) 1047 (C or T) Phe at 305 (no change) 7 E. Edkins (Mar 23)
3. DNA sequence polymorphisms/variations in the non-coding region
4005+117 (T or G) intron 20 I. Greil, K. Wagner, W. Rosenkranz (Mar 15); H. Cuppens, P. Marynen, J.J. Cassiman (Mar 22) 4374+13 (A or G) intron 23 Costes et al. as above (mar 22)
4. A DNA sequencing artifact was noted at around nucleotide position 4005+1 by H. Cuppens, P. Marynen, J.J. Cassiman (Mar 22); more careful analysis showed that 4005+1GTGA->TCAG did not exist. As a general caution, consortium members are advised to confirm all DNA sequence alterations by an independent method (such as restriction enzyme digestion or ASO hybridization) in addition to sequencing.
5. The journal Human Heredity welcomes submission of mutation reports from the CF Genetic Analysis Consortium members (see letter from L.P. ten Kate).
6. An updated list of CF mutations is attached.