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The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2015

Marion Heller, Natacha Gaitch, Brigitte Martinez, François Cartault, Michel Renouil, Corinne Theze, Emmanuelle Girodon, Thierry Bienvenu

Abstract excerpt

Examination of genotype-phenotype correlations along with functional evaluation of CFTR mutations may not be straightforward. The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility. However, the substitution of Gly622 by an aspartic acid in vitro would perturb the local structure or even affect the CFTR folding itself. In...

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Identifiers

PMID: 25443471
DOI: 10.1016/j.jcf.2014.11.001

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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