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Article

The p.Cys169Tyr variant of connexin 26 is not a polymorphism.

Human molecular genetics - 1 May 2015

Zonta Francesco, Girotto Giorgia, Buratto Damiano, Crispino Giulia, Morgan Anna, Abdulhadi Khalid, Alkowari Moza, Badii Ramin, Gasparini Paolo, Mammano Fabio

Abstract excerpt

Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe hearing loss in two Qatari families. We have analyzed the effect of this mutation using a combination of confocal...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25628337
DOI: 10.1093/hmg/ddv026
PMCID: PMC4383868

Genes

GJB2

Variants

Provenance

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