NEWSLETTER #53, February 26, 1993
1. Mutation reports:
Name Amino acid change Nucleotide change Exon Reference Q525X Gln->Stop at 525 C->T at 1705 10 Shackleton & Harris (Jan 28) M1K Met->Lys at codon T->A at 134 1 M. Claustres, J.F. Culard, 1 M. Laussel, G. Razakatzara (Jan 31) M1V Met->Val at codon A->G at 133 1 J. Cheadle & L. Meredith 1 (Feb 4) G1249E Gly->Glu at 1249 G->A at 3878 20 K. Wagner, I. Greil, W. Rosenkranz (Feb 4) 4005+1GT->TG splice mutation GT->TG at 4005+1 intron Wagner et al. as above 20 (Feb 4) 936delTA frameshift TA deletion from 936 6b M. Chillon, J. Giménez, T. Casals, V. Nunes, X. Estivill (Feb 5) L327R Leu->Arg at 327 T->G at 1112 7 M. Ravnik-Glavac, D. Glavac, M. Dean (Feb 7) 3056delGA frameshift GA deletion from 3056 16 M. Schwartz, A-L. Palle, G. Vedel, P. Larsen (Feb 12) 296+12T->C splice mutation? T->C at 296+12 intron 2 H. Cuppens, P. Marynen, J.J. Cassiman, M. Scharwz, G. Malone, M. Super (Feb 18) 1717-8G->A splice mutation? G->A at 1717-8 intron L. Kalaydjieva, A. Savov, 10 A. Jordanova, C. Ferec, I. Quere, M.P. Audrezet, B. Mercier (Feb 19) Q493R Gln->Arg at 493 A->G at 1610 10 Kalaydjieva et al. as above (Feb 19) G149R Gly->Arg at 149 G->A at 577 4 C. Ferec, I. Quere, M.P. Audrezet, C. Verlingue, O. Raguenes, H. Guillermit, B. Mercier (Feb 19) 541del4 frameshift 4 bp deletion from 4 Ferec et al. as above (Feb 541 19) 624delT frameshift deletion of T at 624 5 Ferec et al. as above (Feb 19) 3007delG frameshift deletion of G at 3007 15 Ferec et al. as above (Feb 19) 4172delGC frameshift deletion of GC from 22 Ferec et al. as above (Feb 4172 19) 3271+1G->A splice mutation G->A at 3271+1 intron Ferec et al. as above (Feb 17a 19) D579G Asp->Gly at 579 A->G at 1868 12 M. Ferrari, R. Bordoni, E. Belloni, L. Cremonesi (Feb 22)
2. DNA sequence polymorphisms/variations in the non-coding region
3499+45 (T or C) intron 17b J. Zielenski, D. Markiewicz, L.-C. Tsui (Feb 25)
3. An updated list of CF mutations will be published next month.