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Article

Alteration of protein function by a silent polymorphism linked to tRNA abundance.

PLoS biology - 1 May 2017

Kirchner Sebastian, Cai Zhiwei, Rauscher Robert, Kastelic Nicolai, Anding Melanie, Czech Andreas, Kleizen Bertrand, Ostedgaard Lynda S, Braakman Ineke, Sheppard David N, Ignatova Zoya

Abstract excerpt

Synonymous single nucleotide polymorphisms (sSNPs) are considered neutral for protein function, as by definition they exchange only codons, not amino acids. We identified an sSNP that modifies the local translation speed of the cystic fibrosis transmembrane conductance regulator (CFTR), leading to detrimental changes to protein stability and function. This sSNP introduces a codon pairing to a low-abundance tRNA...

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Share to Cystic Fibrosis Transmembrane Conductance Regulator
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 28510592
DOI: 10.1371/journal.pbio.2000779
PMCID: PMC5433685

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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