NEWSLETTER #55, June 5, 1993
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1. Mutation reports:
Name Amino acid change Nucleotide change Exon Reference
S912X Ser->Stop at 912 C->A at 2867 15 Leoni et al. (NL#54)
3724delG frameshift deletion of G at 3724 19 T. Bienvenu, N.
Fonknecten, F.
Desclaux-Arramond, J.C.
Kaplan, C. Beldjord (Mar
31)
N66S Asn->Ser at 66 A->G at 328 3 S. Cashman, M. De Arce, J.
Hayes (April 22)
V456F Val->Phe at 456 G->T at 1498 9 T. Dörk, B. Tümmler (Apr
29)
406-1G->T splicing mutation G->T at 406-1 intron 3 T. Bienvenu, N.
Fonknecten, F.
Desclaux-Arramond, J.C.
Kaplan, C. Beldjord (Apr
30)
A561E Ala->Glu at 561 C->A at 1814 12 A. Duarte, C. Barreto, J.
Lavinha (May 4)
R75L* Arg->Leu at 75 G->T at 356 3 B. Costes, N. Ghanem, M.
Goossens (May 5)
E1409V Glu->Val at 1409 A->T at 4358 23 M. Claustres, M. Giensily,
M. Laussel, G. Razakaizara
(May 6)
4271delC frameshift deletion of C at 4271 23 S. Shackleton, A, Harris
(May 11)
M1210I* Met->Ile at 1210 G->A at 3762 19 T. Nukiwa, K. Seyama (May
13)
Q1352H* Gln->His at 1352 G->C at 4188 22 T. Nukiwa, K. Seyama (May
13)
Q1100P Gln->Pro at 1100 A->C at 3431 17b V. Nunes, A. Palacio, X.
Estivill, C. Ferec, M.P.
Audrezet, B. Mercier (May
17)
H949Y His->Tyr at 949 C->T at 2977 15 B. Costes, N. Ghanem, E.
Girodon, M. Goossens (May
17)
297-3C->T splicing mutation C->T at 297-3 intron 2 T. Bienvenu, N.
(?) Fonknecten, F.
Desclaux-Arramond, J.C.
Kaplan, C. Beldjord (May
18)
711+5G->A splicing mutation G->T at 711+5 intron 5 P. Gasparini, L.
Bisceglia, A. Savoia, L.
Zelante (May 18)
3791delC frameshift deletion of C at 3791 19 M. Macek, Jr., C.L. Davis,
A. Hamosh, G.R. Cutting
(May 18)
S1159P Ser->Pro at 115p T->C at 3607 19 Macek et al (as above)
V1212I Val->Ile at 1212 G->A at 3766 19 Macek et al (as above)
V317A Val->Ala at 317 T->C at 1082 7 C. Ferec, I. Quere, C.
Verlingue, M.P. Audrezet,
O. Raguenes, H.
Guillermit, B. Mercier
(May 18)
T582R Thr->Arg at 582 C->G at 1877 12 T. Casals, A. Palacio, V.
Nunes, X. Estivill, C.
Ferec, M.P. Audrezet (May
19)
406-10C->G splicing mutation C->G at 406-10 intron 3 I. Greil, K. Wagner, W.
(?) Rosenkranz (May 27)
G126D Gly->Asp at 126 G->A at 509 4 I. Greil, K. Wagner, W.
Rosenkranz (May 27)
I175V Ile->Val at 175 A->G at 655 5 M. Claustres, M. Laussel,
G. Razakaizara (May 27)
* Atypical CF patients
2. DNA sequence polymorphisms/variations in the coding region
Nucleotide position Amino acid change Exon Reference
676 (A or G) Ser->Gly at 182 5 M. Claustres, M.
Laussel, G. Razakaizara
(May 27)
2092 (A or G) Ser->Gly at 654 13 M. Claustres, M.
Laussel, G. Razakaizara
(May 27)
345 (T or C) Asn at 71 (no change) 3 M. Claustres, M.
Laussel, G. Razakaizara
(May 27)
3. DNA sequence polymorphisms/variations in the non-coding region
4700delT exon 24 K. Grade, I. Grunewald,
C. Coutelle (April 29)
1812-108 (T or C) intron 12 M. Claustres, M.
Laussel, G. Razakaizara
(May 27)
4. The 4005+1GT->TG mutation in intron 20 is proven to be a sequencing artifact by Greil et al. (May 27).
5. Please add S912X to your list of mutations reported in NL#54. My apology.
Best wishes,