Study of MYL3 Mutation Variants and Their Association with Cardiac Amyloidosis

Authors

Elaine Vanterpool, Oakwood University
Kyla Tucker, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

Cardiac Amyloidosis is a rare serious, pathological, clinical progressive disease that is caused by the buildup of amyloid fibrils deposited at the cardiac level. The excess amyloid fibrils deposited in the myocardium leads to this critical condition. Cardiac amyloidosis is best treated when diagnosed in its initial stages. The purpose of this study was to identify and assess the clinical significance and pathogenicity of the Myosin light chain 3 (MYL3) its variants, and the potential link to cardiac amyloidosis. For this study, Simple ClinVar was utilized to identify MYL3 as one of the genes correlated with Cardiac Amyloidosis and variants. The three MYL3 missense variants identified were the Met149Val, which is suggested potentially pathogenic variant, the Arg94His, which is a suggested possibly pathogenic/likely pathogenic variant, and Arg31His, which is a suggested uncertain/unconflicting variant. According to ClinVar, MYL3 is expressed only in the heart. PolyPhen-2 and SIFT were used to further evaluate the pathogenicity of the three variants.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Tucker, Kyla, "Study of MYL3 Mutation Variants and Their Association with Cardiac Amyloidosis" (2025). Student Posters. 65.
https://ouscholars.oakwood.edu/student-posters/65