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- Title
Synonymous Variants of Uncertain Silence.
- Authors
Giacoletto, Christopher J.; Rotter, Jerome I.; Grody, Wayne W.; Schiller, Martin R.
- Abstract
Synonymous variants, traditionally regarded as silent mutations due to their lack of impact on protein sequence, structure and function, have been the subject of increasing scrutiny. This commentary explores the emerging evidence challenging the notion of synonymous variants as functionally inert. Analysis of the activity of 70 synonymous variants in the HIV Tat transcription factor revealed that 50% of the variants exhibited significant deviations from wild-type activity. Our analysis supports previous work and raises important questions about the broader impact of non-silent synonymous variants in human genes. Considering the potential functional implications, the authors propose classifying such variants as "synonymous variants of uncertain silence" (sVUS), highlighting the need for cautious interpretation and further investigations in clinical and genetic testing settings.
- Subjects
GENETIC testing; AMINO acid sequence; HUMAN genes; GENETIC variation; TRANSCRIPTION factors
- Publication
International Journal of Molecular Sciences, 2023, Vol 24, Issue 13, p10556
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms241310556