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Updated: Aug 25, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
In silico analysis of a SLC6A4 G100V mutation in lung cancers
Amrit L Pappula1, Louis N Gibson1, Renee A Bouley1
1The Ohio State University.
Abstract:
SLC6A4 is a serotonin re-uptake transporter which has been a target for anti-depressant therapies but recently some mutations have been described in cancer cells. Here, we characterize mutations in SLC6A4 that appear in cancer cells. We employed several validated computational and artificial intelligence algorithms to characterize the mutations. We identified a previously uncharacterized G100V mutation in lung cancers. In sillico structural analysis reveals that this mutation may affect SLC6A4 ligand binding and subsequently its function. We also identified several other mutations that may affect the structure of the protein. This preliminary analysis highlights the role of SLC6A4 in human cancers.

