ABCMdb

PMID: 7529319

Mercier B, Lissens W, Novelli G, Kalaydjieva L, de Arce M, Kapranov N, Canki Klain N, Estivill X, Palacio A, Cashman S, et al.
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
J Med Genet. 1994 Sep;31(9):731-4., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Arg1066Cys ABCC7 p.Tyr1092* In the CFTR gene, it was initially reported that the majority of mutations occurred in the regions encoding the two nucleotide binding folds.89 However, recently, through collaborative studies, we have described 14 new mutations located in exon 17b, that is, a region encoding a part of the second transmembrane domain.6""' These mutations, identified in different European populations (French, Belgian, Yugoslavian, Russian, Italian, Bulgarian, Irish, and Spanish), were found on only one chromosome in these populations, except the R1066C, RI070Q, and Y1092X mutations which were found on six, five, and four CF chromosomes respectively. Login to comment 19 ABCC7 p.Arg1070Gln ABCC7 p.Arg1066Cys ABCC7 p.Tyr1092* ABCC7 p.His1085Arg ABCC7 p.Arg1066Leu ABCC7 p.Trp1089* ABCC7 p.Leu1077Pro ABCC7 p.Arg1066His ABCC7 p.Gly1069Arg ABCC7 p.Ala1067Thr Most of these are missense mutations and as no functional test has been 732 Table 1 Mutations identified in exon 17b of the CFTR gene Mutation Nucleotide Modificationl Ethnic Rcferencesposition ongini (No) 3271-1 G--A 3272-1 G-A Belgian (1) 11F1052V 3286 T-G Belgian (1) 11HI054D 3292 CG French (1) 13G1061R 3313 G-C French (1) 113320 Dup 3320 Duplication of Breton (1) 6 CTATG R1066C 3328 CT French (1) 14 R1066L R1066H A1067T G1069R R1070Q 3359 del CT L1077P H1085R W1089X Y1092X M1IOIR 3329 3329 3331 3337 3341 G-T G-+A G-A G,A G--A 3359 3362 3386 3398 3408 3434 del CT T--C A-.G G-+A C +A T--G Spanish (5) French (1) Breton (1) Breton (1) Bulgarian (1) Bulgarian (3) Rumanian (1) Albanian (1) French (1) Italian (1) French (1) Spanish (1) French (4) Turkish (1I) * Bozon et al, personal communication. Login to comment 33 ABCC7 p.Arg1070Gln ABCC7 p.Arg1066Cys ABCC7 p.Tyr1092* ABCC7 p.Phe1052Val ABCC7 p.Gly1069Arg ABCC7 p.Ala1067Val (1) HI085R, (2) 3320 ins 5, (3) R1066C, (4)R1066H, (5) A1067V, (6) 3272-16 GA, (7) F1052V, (8) R1070Q, (9) nornmal, (10) Y1092X, (11) G1069R,(12) nornial A cluster of cystic fibrosis mutations in exon I 7b of the CFTR gene: a site for rare mutations 14b, 17a, 23, 24) (table 3). Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Gly542* ABCC7 p.Arg1162* All the most frequent mutations reported are located in the exons encoding the NBFs: AF508 inexon 10, G542X, G551D, and 1717-1 G--A in exon 11, and R1162X in exon 19. Login to comment 106 ABCC7 p.Trp1089* Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010 del TATT in exon 21. Login to comment