NEWSLETTER #51, December 23, 1992
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!