NEWSLETTER #46, June 23, 1992
1. Mutation reports:
Name Amino acid change Nucleotide change Exon Reference 876-5T->G splice mutation? deletion of at least intron Costes B, Martin J, Ghanem 8 bp from 876-10 6a N, and Goossens M (May 27) *** complex deletion complex deletion 4-7,11-1 Morral N, Nunes V, Casals involving exons 4-7 8 T, Estivill E (June 3) and 11-18 2991del32 frameshift deletion of 32 bp 15 Dörk T, Tümmler B (June 8) from 2991 to 3022 I1328L Ile->Leu at 1328 ATA->TT beginning 22 Dörk T, Tümmler B (June 8) /4116delA and frameshift from 4114 K716X Lys->Stop at 716 AA->GT at 2277 and 13 Férec C, Quere I, 2278 Verlingue C, Mercier B, Audrezet MP, Quillermit H (June 12) 457TAT->G frameshift TAT->G beginning 4 Férec C, Quere I, from 457 Verlingue C, Mercier B, Audrezet MP, Quillermit H (June 12) G628R(G->C) Gly->Arg at 628 G->C at 2014 13 Cuppens H, Marynen P, Cassiman JJ (June 15) 458delAT frameshift deletion of AT at 458 4 Glavac D, Ravnik-Glavac M, Komel R, Dean M (June 17) 977insA frameshift insertion of A at 977 6b Cheadle J, Meredith L (June 18) 4016insT frameshift insertion of T at 21 Cheadle J, Meredith L 4016 (June 18) A349V Ala->Val at 349 C->T at 1178 7 Férec C, Quere I, Verlingue C, Mercier B, Audrezet MP and Quillermit H (June 22) A534E Ala->Glu at 534 C->T at 1733 11 Férec C, Quere I, Verlingue C, Mercier B, Audrezet MP and Quillermit H (June 22) 876-14del12 splicing mutation? deletion of 12 bp intron Férec C, Quere I, from 876-14 6a Verlingue C, Mercier B, Audrezet MP and Quillermit H (June 22)
Note: The mutation 876-5T->G reported by Costes et al. (May 27) is almost the same as 876-14del12 reported by Férec et al. (June 22), according to their original description. The same applies to 457TAT->G reported by Férec et al. (June 12) and 458delAT reported by Glavac et al. (June 17). The four reporting groups may want to re-examine their sequencing gel to make sure that the alterations are indeed different. Different symbols have been assigned for the time being.
*** There is no symbol given to the large deletion reported by Morrals et al. Please make suggestions. If there is no innovative name, I would simply call it CFdel#1.
2. DNA sequence polymorphisms/variations in the coding region:
Nucleotide position Amino acid change Exon Reference 641 (G or A) Arg->His at 170 5 Devoto M, Rady M, Ronchetto P, Pia Russo M, Romeo G (May 22)
3. DNA sequence polymorphism elsewhere in the CFTR gene:
Description Location Reference 3271+42A->T intron 17a Cuppens H, Marynen P and Cassiman JJ (June 15) 3272-93T->C intron 17a Glavac D, Ravnik-Glavac M, Komel R, Dean M (June 15)
H1054D, C->G at 3292 not H1054R (Férec et al., NL#45) Apology from Ferec et al.
5. A CF mutation screening report was mailed to all members of this consortium on June 18. Some of you might have received it already. If you fail to get it within the next while, please let me know. Please let me know of any mistakes in the table, as there are inevitably errors in transferring such a large set of data.
6. An up-to-date list of mutations in the CFTR gene is attached to this newsletter. Please let me know of any corrections or new references.