CF Genetic Analysis Consortium NEWSLETTER #62- June 14, 1994
1. Summary of CF mutations:
Name Nucleotide Exon Consequence Reference change 1249-5A->G A->G at 1249 intron 7 splicing Bienvenu T, Cazeneuve C, Kaplan mutation? JC, Beldjord C (April 3) E193K G->A at 709 5 Glu->Lys at 193 Ferrari M, Pappalardo E, (PS) Cremonesi L (April 8); Novelli G, Sangiullo F, Dallapicola B, Férec C, Quere I, Verlingue C, Merceir B (May 9) W19C G->T at 189 2 Trp->Cys at 19 Macek MJr, Mackova A, Sedriks (PS) SE, Cutting GR (April 14) D192N G->A at 706 5 Asp->Asn at 192 Costes B, Ghanem N, Girodon E, Goossens M (April 18) Q237E C->G at 841 6a Gln->Glu at 237 Costes B et al. (April 18) 3419delT deletion of T 17b frameshift Balassopoulou A, Fotaki V at 3419 (April 20) I506T T->C at 1649 10 Ile->Thr at 506 Claustres M, Desgeorges M, Romey M-C (April 20) Q98R A->G at 425 4 Gln->Arg at 98 Claustres M, Romey M-C, Desgeorges M (April 21) P111L C->T at 464 4 Pro->Leu at 111 Claustres et al. (April 21) R170C C->T at 640 5 Arg->Cys at 170 Férec C, Quere I, Verlingue C, Rauenes O, Audrezet M-P, Merceir B (April 22) E193X G->T at 709 5 Glu->Stop at 193 Férec et al. (April 22) 1898+1G->T G->T at 1898+1 intron 12 splice mutation Morris CP (May 12) I980K T->A at 3071 16 Ile->Lys at 980 Bienvenu T, Cazeneuve C, Kaplan (CBAVD) JC, Beldjord C (May 19) L633P T->C at 2030 13 Leu->Pro at 633 Haworth A, Malone G, Schwarz M (May 23) Y1092X(C->G) C->G at 3408 17b Tyr->Stop at 1092 Shoshani T, Kerem B (May 24) 4173delC deletion of C 22 framshift Zielenski J, Markiewicz D, Tsui at 4173 L-C (May 26) I618T T->C at 1985 13 Ile->Thr at 618 Macek MJr, Mackova A, Sedriks SE, Egan ME, Cutting GR (June 1) K166Q A->G at 628 5 Lys->Gln at 166 Macek et al. (June 1) R785X C->T at 2485 13 Arg->Stop at 785 Wallace A, Tassabehji M (June 11)
2. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference 1104C/G No change (Pro at 324) 7 Petreska L, Koceva S, Efremov GD (April 18) 3333C/T No change (Ala at 1067) 17b Jezequel P, Dorval I, Le Gall JY (May 16)
3. DNA sequence polymorphism elsewhere in the CF gene
Description Location Reference 2752-15C/G C or G at 2752-15 (intron 14b) Dörk T, Schmidt K, Tümmler B (April 7) 1341+18C/A C or A at 1341+18 (intron 8) Claustres M (April 22) 1249-82C/T C or T at 1249-82 (intron 7) Zielenski J, Markiewicz D, Tsui L-C (May 26)
4. Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C (April 3) and Cao A, Rosatelli MC and Leoni GB (May 5) retract their report on 2184insG.
5. Hughes D, Hill A, Graham C (April 20) report the presence of an additional T in intron 18 at position 3601-99.
6. Claustres M (April 22) now reports that the A to C change at 1341+18 in intron 8 is a sequence polymorphism.
7. Estivill E (April 12) corrects the name of their previously reported mutation 1811+1.6kbA->G after more detailed analysis of the region around exon 11 and 12.
8. Malone G and Schwarz M are requesting data for a genotype-phenptype correlation study on E60X. Please see letter and data contribution form (April 4).
9. The CF Genotype-Phenotype Consortium is requesting data for a study on mutations associated with pancreatic sufficiency. Anyone with appropriate data is welcome to contribute. Please see letter and data contribution form from Ada Hamosh.
10. The consortium report on the population variation of common CF mutations has been formally accepted for publication in Human Mutation later this year. Citation should be: The Cystic Fibrosis Analysis Consortium (1994). Population variation of common CF mutations. Human Mutation 4: (in press).
11. I have been working on the idea of establishing an electronic version of the CF mutation database accessible by internet. I will report on the progress of this project. If you use e-mail regularly, please send me a note. My address is <firstname.lastname@example.org>.