Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination

Abstract Background Achromatopsia is an autosomal recessive genetic disease, and 95% of achromatopsia patients carry pathogenic mutations in the CNGA3 and CNGB3 genes. Once translated, these genes function together by forming a cone photoreceptor CNG channel protein complex. Results There are 150 CN...

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Bibliographic Details
Main Authors: Ditte K. Rasmussen, Young Joo Sun, Joel A. Franco, Aarushi Kumar, Jennifer T. Vu, Alexander G. Bassuk, Vinit B. Mahajan
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Achromatopsia
CNGA3
Cyclic nucleotide-gated ion channel
In silico analysis
Variant classification
Color vision defects
Online Access:https://doi.org/10.1186/s13023-025-03792-3
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https://doi.org/10.1186/s13023-025-03792-3

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