ABCMdb

PMID: 7531541

Balassopoulou A, Papadakis M, Loukopoulos D
A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient.
Hum Mol Genet. 1994 Oct;3(10):1887-8., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Trp496* According to the adopted nomenclature (8) this mutation is defined as W496X. Login to comment 31 ABCC7 p.Trp496* ABCC7 p.Trp496* Lane 1: Father; W496X/normal V470 homozygote. Lane 2: Propositus; W496X/unknown mutation M470V compound. Lane 3: Normal exon 10 control: M470V compound. Lane 4: Mother; normal exon 10 homozygous for the M470 polymorphism. ; To whom correspondence should be addressed atUniversityofNorthCarolinaatChapelHillonOctober25,2012http://hmg.oxfordjournals.org/Downloadedfrom Human Molecular Genetics, 1994, Vol. 3, No. Login to comment 41 ABCC7 p.Trp496* As a stop codon creating mutation, W496X is expected to result in severe phenotype of the propositus; unfortunately, the lack of knowledge of the other mutation of the patient, does not allow any further correlations. Login to comment