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Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

American journal of human genetics - 5 Aug 2021

Lombardi Silvia, Leo Gabriele, Merlin Simone, Follenzi Antonia, McVey John H, Maestri Iva, Bernardi Francesco, Pinotti Mirko, Balestra Dario

Abstract excerpt

The pathogenic significance of nucleotide variants commonly relies on nucleotide position within the gene, with exonic changes generally attributed to quantitative or qualitative alteration of protein biosynthesis, secretion, activity, or clearance. However, these changes may exert pleiotropic effects on both protein biology and mRNA splicing due to the overlapping of the amino acid and splicing codes, thus...

Topics

Computational Biology
Exons
Factor VIII
Hemophilia A
Humans
Mutation
Phenotype
Protein Biosynthesis
RNA Splicing
RNA, Messenger

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Identifiers

PMID: 34242570
DOI: 10.1016/j.ajhg.2021.06.012
PMCID: PMC8387460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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