Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes

Abstract Background RNA splicing facilitated by the spliceosome complex, relies on specific motifs at exon-intron junctions of pre-mRNAs to generate mature mRNAs. Mutations in splice junctions can disrupt splicing, potentially leading to premature protein truncation. Nucleotides within the exonic co...

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Автори:	Sruthi Srinivasan, Swetha Subramanian, Hui Zhou, Anselm Hoppmann, Patrick Metzger, Melanie Boerries, Senthilkumar Ramamoorthy
Формат:	Artigo
Мова:	Inglês
Опубліковано:	BMC 2025-12-01
Серія:	BMC Genomics
Предмети:	Splice junction Exonic splice variants Splicing Canonical splice sites Silent variants Missense variants
Онлайн доступ:	https://doi.org/10.1186/s12864-025-12466-0
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Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes

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