CF Genetic Analysis Consortium NEWSLETTER #63- Sept 20, 1994
1. Summary of CF mutations:
Name Nucleotide Exon Consequence Reference
change
2347delG deletion of G 13 frameshift Bienvenu T, Cazeneuve C, Kaplan
at 2347 JC, Beldjord C (June 7)
D985Y G->T at 3085 16 Asp->Tyr at 985 Bienvenu T et al. (June 7)
1150delA deletion of A 7 frameshift Prior T, Stein J, Highsmith E
at 1150 (June 10)
G1127E G->A at 3512 17b Gly->Glu at 1127 Bienvenu T, Cazeneuve C,
Tcherkoff L, Kaplan JC,
Beldjord C (June 22)
G1061R G->A at 3313 17b Gly->Arg at 1061 Bienvenu T et al. (June 22)
S50Y C->A at 281 2 Ser->Tyr at 50 Zielenski J, Markiewicz D, Tsui
(CBAVD) L-C (June 21)
S466X1 C->A at 1529 10 Ser->Stop at 466 Leymarie P, Mittre H (June 24)
875+1G->A G->A at 875+1 intron 6a splice mutation Duarte A, Barreto C, Lavinha J
(June 25)
3272-4A->G A->G at 3272-4 intron splice mutation? Kanvakis M (July 13)
17a
296+2T->C T->C at 296 intron 2 splice mutation Ferec C, Quere I, Verlingue C,
Raguenes O, Audrezet M-P,
Mercier B (July 19)
211delG deletion of G 2 frameshift Ferec C et al. (July 19)
at 211
A1006E C->A at 3149 17a Ala->Glu at 1006 Novelli G, Sanguiolo F,
Dallapicoola B, Ferec C, Quere
I, Augrezet M-P, Mercier B
(July 19)
S42F C->T at 257 2 Ser->Phe at 42 Novelli G et al. (July 19)
3121-2A->T A->T at 3121 intron 16 splice mutation Novelli G, Sanguiolo F,
Dallapicoola B, Ferec C, Quere
I, Augrezet M-P, Mercier B
(July 22)
1460delAT deletion of 9 frameshift Bienvenu T, Tcherkoff L,
AT from 1460 Cazeneuve C, Beldjord C (July
25)
D579Y G->T at 1867 12 Asp->Tyr at 579 Harris K, Haworth A, Malone G,
Schwarz M (July 28)
359insT insertion of 3 frameshift Calustres M, Desgeorges M,
T after 359 Romey M-C (July 28)
1504delG deletion of G 9 frameshift Mackova A, Macek MJr, Cutting
at 1504 GR (Aug 10)
S489X C->A at 1598 10 Ser->Stop at 489 Macdonald K, Haworth A, Malone
G, Schwarz M (Aug 15)
V920M G->A at 2890 15 Val->Met at 920 Bienvenu T, Cazeneuve C, Kaplan
J-C, Beldjord C (Sept 2)
2790-1G->T G->T at 2790-1 intron splice mutation Bienvenu T et al. (Sept 2)
14b
L732X T->G at 2327 13 Leu->Stop at 732 Malone G, Haworth A, Schwarz M
(Sept 5)
3272-54del704 deletion of 17b deletion of exon Ferrari M, Magnani C, Cremonesi
704 bp from 17b L, Magnaghi P, Taramelli R
3272-54 (Sept 6)
T665S A->T at 2125 13 Thr->Ser at 665 Ferec C, Mercier B, Verlingue C
(Sept 6)
V322A T->C at 1097 7 Val->Ala at 322 Ferec C, Quere I, Verlingue C,
(mutation?) Raguenes O, Audrezet M-P,
Mercier B (Sept 7)
4015delA deletion of A 21 frameshift F Ferec C, Quere I, Verlingue C,
at 4015 Raguenes O, Audrezet M-P,
Mercier B (Sept 16)
2766del8 deletion of 8 14b frameshift Ferec C, Quere I, Audrezet M-P,
bp from 2766 Verlingue C, Mercier B (Sept 19)
2789+3delG deletion of G intron splice mutation Macek MJr, Mackova A, Cutting
at 2789+3 14b GR (Sept 19)
2. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference
2209T/C Phe or Leu at 693 13 Ferec C, Quere I,
Verlingue C, Raguenes O,
Audrezet M-P, Mercier B
(Sept 16)
3. Dicky Halley raised the question about R75Q (see her letter of August 28). Anyone who is interested in sharing some insight on this subject, please write to Dicky and copy to me. Use e-mail if possible.
4. The consortium report will appear soon: The Cystic Fibrosis Analysis Consortium (1994). Population variation of common CF mutations. Human Mutation 4: 167-177. Anyone who is interested in receiving information from Wiley
5. Consortium meeting in Montreal: A short meeting is tentatively scheduled on Wednesday, October 19, immediately after Garry Cutting's symposium, entitled "What happens after cloning a gene: CFTR as an example". It is probably the most logical time to have the meeting. We need to discuss: (a) continuation of the Consortium; (b) format of reports and newsletter; (c) Steering committee; (d) electronic database; (e) future plans. Unfortunately, I do not plan to go to Orlando.
6. Please use e-mail for communication as much as possible. My address is cfdata@sickkids.on.ca.
Best wishes,
Lap-Chee Tsui