Investigating the Structural Impact and Conformational Dynamics of a Sequence Variant (c.242G>A) in TMIE Gene Provoking Usher Syndrome
Saqib Ishaq, Shabir Ahmad Usmani, Obaid Habib, Raheel Tahir, Abdul Aziz, Siddiq Ur Rahman, Liang Huiying
This study uses molecular dynamics simulations to show that the c.242G>A variant in TMIE causes structural instability and conformational changes leading to Usher syndrome.
bioRxiv · Apr 2, 2024 · PreprintBioinformatics