In Silico Functional Assessment of COL4A3, COL4A4, and COL4A5 SNPs in Alport Syndrome
A substantial number of deleterious variants involved glycine substitutions, which are likely to affect protein flexibility, folding, and intermolecular interactions, potentially impairing the structural integrity of the glomerular basement membrane.
Beyza Rümeysa Erginal Geç, Tuğba Kaman, Mesut Karahan
· İstanbul Gelişim Üniversites... · 0 citations