ABCMdb

PMID: 12783301

Sheth S, Shea JC, Bishop MD, Chopra S, Regan MM, Malmberg E, Walker C, Ricci R, Tsui LC, Durie PR, Zielenski J, Freedman SD
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.
Hum Genet. 2003 Aug;113(3):286-92. Epub 2003 Jun 3., [PubMed]

Sentences

No. Mutations Sentence Comment

83 ABCC7 p.Ser686Tyr ABCC7 p.Ile1366Phe S686Y and I1366F are novel potentially disease-causing variants that have not been reported from screening thousands of CF and healthy patients (http://www.genet.sickkids.on.ca/cftr/). Login to comment 84 ABCC7 p.Arg75Gln The R75Q variant is currently not listed as a CF-causing mutation, although its contribution to CF-like phenotypes cannot be excluded. Login to comment 109 ABCC7 p.Arg75Gln ABCC7 p.Ser686Tyr ABCC7 p.Ile1366Phe The remaining three PSC patients had potentially disease-causing mutations (S686Y, I1366F, R75Q), which may contribute to CF-like phenotypes. Login to comment 115 ABCC7 p.Ser686Tyr For example, S686Y, which results in a change of serine to tyrosine, is a potentially disease-causing mutation because it would abolish the consensus phosphorylation site for both PKA and PKC protein kinases. Login to comment