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).