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Article

The silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunction.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Nov 2013

Lazrak Ahmed, Fu Lianwu, Bali Vedrana, Bartoszewski Rafal, Rab Andras, Havasi Viktoria, Keiles Steve, Kappes John, Kumar Ranjit, Lefkowitz Elliot, Sorscher Eric J, Matalon Sadis, Collawn James F, Bebok Zsuzsanna

Abstract excerpt

The most common disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is the out-of-frame deletion of 3 nucleotides (CTT). This mutation leads to the loss of phenylalanine-508 (ΔF508) and a silent codon change (SCC) for isoleucine-507 (I507-ATC→ATT). ΔF50...

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Identifiers

PMID: 23907436
DOI: 10.1096/fj.13-227330
PMCID: PMC4046180

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23907436-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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The silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunction.PMID 23907436Read ↗

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Readthrough-induced misincorporated amino acid ratios guide mutant-specific therapeutic approaches for two CFTR nonsense mutationsSemantic proximity Read ↗

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The cystic fibrosis transmembrane conductance regulator (CFTR) and its stabilitySemantic proximity Read ↗

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