ABCMdb

PMID: 23378595

Tsui LC, Dorfman R
The cystic fibrosis gene: a molecular genetic perspective.
Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a009472. doi: 10.1101/cshperspect.a009472., [PubMed]

Sentences

No. Mutations Sentence Comment

95 ABCC7 p.Glu831* In the case of the c.2491G.T (p.Glu831X, also known as 2623G.T, E831X) variant, the presence of an alternative spliced mutant transcript may explain a mild disease presentation and pancreatic sufficiency in patients carrying this nonsense mutation (Hinzpeter et al. 2010). Login to comment 104 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His However, if the 5T allele is present in combination with another mild mutation, p.Arg117His (R117H) (Gervais et al. 1993), the combined effect of R117H-5T (reduced protein function and lower abundance of correctly spliced transcript) is ap- parentlysufficient to cause CF, albeit the pancreatic sufficient form (Chu et al. 1993; Massie et al. 2001; Zuccato et al. 2004). Login to comment 105 ABCC7 p.Asp648Val ABCC7 p.Thr665Ser ABCC7 p.Glu664* Other examples of mutations affecting splicing efficiency include several missense (D648V and T665S) and nonsense(E664X)mutations,presumablyduetothe disruption of the ESE elements within exon 13 (Aznarez et al. 2003). Login to comment