ABCMdb

PMID: 10878476

Ravnik-Glavac M, Dean M, Glavac D
Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens.
Hum Hered. 2000 Sep-Oct;50(5):318-9., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Arg766Met One is a substitution of thymine for guanine at nucleotide position 2429, which causes at amino acid level a substitution of methionine (R766M) for arginine at 766. Login to comment 3 ABCC7 p.Arg792Gly Another mutation is a substitution of glycine at 792 (R792G) for arginine due to a nucleotide change of C to G at 2506 (fig. 1). Login to comment 21 ABCC7 p.Arg792Gly ABCC7 p.Arg766Met No normal single-stranded DNAs (alleles) have been detected in sample 3 carrying mutations R766M and R792G. Login to comment 24 ABCC7 p.Arg792Gly ABCC7 p.Arg766Met It is very likely that the newly detected genotype R766M/R792G in a CBAVD patient is connected with a disease phenotype. Login to comment 25 ABCC7 p.Arg792Gly The R776M and R792G lie in the regulatory domain of CFTR. Login to comment 27 ABCC7 p.Arg792Gly For R792G mutant chloride channel, significantly lower intrinsic chloride channel activities were detected compared to wild-type CFTR [3]. Login to comment 29 ABCC7 p.Arg792Gly ABCC7 p.Arg766Met Frequency Both R766M and R792G have each been detected once in 84 CBAVD chromosomes and have not been found in 230 normal chromosomes tested in this study. Login to comment 30 ABCC7 p.Arg792Gly ABCC7 p.Arg766Met Other Comments Single-strand conformational polymorphism (SSCP) analysis showed that R766M and R792G are present on different CFTR alleles of a CBAVD patient. Login to comment