ABCC7 p.Asn418Ser
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PMID: 11504857
[PubMed]
Chen JM et al: "A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models."
No.
Sentence
Comment
591
Similarly, the missense mutations occurring in evolutionarily divergent regions, for example, N418S, G424S, Q890R, and K1177R, may also represent neutral polymorphisms.
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ABCC7 p.Asn418Ser 11504857:591:94
status: NEW
PMID: 12732620
[PubMed]
Pagani F et al: "Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9."
No.
Sentence
Comment
83
Four of the natural substitutions, C31T (Q414X), G61A (G424S), T122G (I444S), and C155A (A455E), significantly decreased exon 9 inclusion to 48, 30, 40, and 16%, respectively, whereas only a modest decrease was evident for N418S.
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ABCC7 p.Asn418Ser 12732620:83:223
status: NEW