ABCMdb

PMID: 7539342

Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
Clin Chem. 1995 Jun;41(6 Pt 1):833-5., [PubMed]

Sentences

No. Mutations Sentence Comment

44 ABCC7 p.Arg117His R117H/? Login to comment 45 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala1067Val ABCC7 p.Phe508Ile F508I R117H F5O8/ R1O7OW F508/A1067V 621+1G-*T /? Login to comment 46 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Tyr1092* ABCC7 p.Ala1067Val ABCC7 p.Phe311Leu ABCC7 p.Phe311Leu ABCC7 p.Phe508Ile SF508/ SF508 SF508 / N1303K AF508/ G551D SF508 / 3272-26G--*A SF508 / 1078 delT F508/Y1092X SF508 / Ai507 F5O8 / G542X SF508 / 621+1G-T F508 / 3898 insC SF508 / 574 delA AF508 / G85E SF508 / W1282X N1303K/F311L G551D/F311L R553X I? Login to comment 47 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Tyr1092* ABCC7 p.Phe311Leu ABCC7 p.Phe311Leu N1303K/? Login to comment 48 ABCC7 p.Asn1303Lys N1303K/? Login to comment 59 ABCC7 p.Arg117His Detection of CFTR lntron-8 Polypyrimidine Tract Length Variants Samples bearing the R117H mutation were analyzed for the intron-8 splice variants 5T or 7T (6). Login to comment 60 ABCC7 p.Arg117His Detection of CFTR lntron-8 Polypyrimidine Tract Length Variants Samples bearing the R117H mutation were analyzed for the intron-8 splice variants 5T or 7T (6). Login to comment 63 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala1067Val Among the 50 chromosomes studied, 24 mutations (48%) were identified as follows: 13 patients were heterozygous for the SF508 deletion (52%), 6 of whom were compound heterozygous for the SF508 and missense mutations such as R117H (3 cases), R1O7OW (2 cases), and a rare mutation designated as A1067V (1 case) recently identified in a CBAVD patient (12); 5 patients had only one identified mutation: R117H (4 cases) and 621+1G-`T (1 case); and 7 patients had no mutation in the 13 studied exons. Login to comment 64 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala1067Val In the intron-8 splice acceptor site the 7T variant was found in all seven R117H carriers. Login to comment 65 ABCC7 p.Arg117His In the intron-8 splice acceptor site the 7T variant was found in all seven R117H carriers. Login to comment 69 ABCC7 p.Arg117His ABCC7 p.Ala1067Val In addition to iF508, we have characterized four mutations: R117H, R1O7OW, 621+1G-*T, and A1067V. Login to comment 70 ABCC7 p.Arg117His ABCC7 p.Ala1067Val In addition to iF508, we have characterized four mutations: R117H, R1O7OW, 621+1G-*T, and A1067V. Login to comment 72 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* However, none of the most frequent mutations described in our CF population (G551D, N1303K, 3272-26G--A, G542X) was identified in our CBAVD cohort. Login to comment 73 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* However, none of the most frequent mutations described in our CF population (G551D, N1303K, 3272-26G--A, G542X) was identified in our CBAVD cohort. Login to comment 74 ABCC7 p.Arg117His Some authors have clearly shown that the R117H mutation found in typical CF was associated with a 5T variant in intron 8 of the CF gene. Login to comment 75 ABCC7 p.Arg117His Some authors have clearly shown that the R117H mutation found in typical CF was associated with a 5T variant in intron 8 of the CF gene. Login to comment 130 ABCC7 p.Arg117His Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. Login to comment 131 ABCC7 p.Arg117His Bienvenu T, Beldjord C, Adjiman M, Kaplan JC. Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. Login to comment