ABCC7 p.Arg1239Ser
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 24556927
[PubMed]
Molinski SV et al: "Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention."
No.
Sentence
Comment
131
Interestingly, the CF Mutation Database5 contains several disease-associated mutations within the p.Ile1234_Arg1239 sequence and includes c.3705T>G (p.Ser1235Arg), c.3709G>A (p.Gly1237Ser), c.3713A>G (p.Gln1238Arg), c.3712C>T (p.Gln1238X), and c.3717G>C (p.Arg1239Ser).
X
ABCC7 p.Arg1239Ser 24556927:131:257
status: NEW