NEWSLETTER #44, April 16, 1992
_____________________________________________________________
1. Mutation report:
Name Amino acid change Nucleotide change Exon Reference
541delC frameshift deletion of C at 541 4 Ferrari M, Goossens M,
Fanen P, Cremonesi L,
Belloni E (March 9)
G27X Gly->Stop at 27 G->T at 211 2 Shackleton S, Harris A
(April 4)
300delA frameshift deletion of A at 300 3 Malone G, Schwarz M, Super
M (April 6)
A120T Ala->Thr at 120 G->A at 409 4 Chillón M, Nunes V, Casals
T, Estivill X (April 6)
W401X Trp->Stop at 401 G->A at 1335 8 Cuppens H, Marynen P,
Cassiman JJ (April 7)
G970R Gly->Arg at 970 G->C at 3040 15 Cuppens H, Marynen P,
Cassiman JJ (April 7)
D614G Asp->Gly at 614 A->G at 1973 13 Novelli G, Dallapiccola B,
Mercier B, Audrezet MP,
Ferec C (April 10)
D648V Asp->Val at 648 A->T at 2075 13 Ferec C, Quere I, Mercier
B, Audrezet MP, Guillermit
H, Verlingue C (April 10)
3601-17T->C splice mutation? T->C at 3601-17 intron Ferec C, Quere I, Mercier
18 B, Audrezet MP, Guillermit
H, Verlingue C (April 10)
R1066L Arg->Leu at 1066 G->T at 3329 17b Ferec C, Quere I, Mercier
B, Audrezet MP, Guillermit
H, Verlingue C (April 10)
2721del11 frameshift 11 bp deletion from 14a Cuppens H, Marynen P,
2721 Cassiman JJ (April 13)
L719X Leu->Stop at 719 T->A at 2288 13 Dörk T, Kälin N, Tümmler B
(April 13)
Q1291R Gln->Arg at 1291 A->G at 4004 20 Dörk T, Kälin N, Tümmler B
(April 13)
681delC frameshift deletion of C at 681 5 Zielenski J, Xia YH, Tsui
L-C (April 15)
3667del4 frameshift 4 bp deletion from 19 Chillón M, Nunes V, Casals
3667 T, Estivill X (April 16)
2. VERY IMPORTANT, CHANGE OF FAX NUMBER: There is a major renovation of the telephone system at the Hospital for Sick Children in Toronto. My telephone number has been changed to (1)416-813-6015. The facsimile machine number is (1)416-813-4931 but the old number will be effective to the end of April. Please take note.
Best regards,
Lap-Chee Tsui