In-silico analysis of deleterious missense SNPs of human TYR gene associated with oculocutaneous albinism type 1 (OCA1)

In this study, we identified ten deleterious missense mutations which may be contributing factors for OCA1. The 3D modeling analysis of mutant models of tyrosinase also strengthen the hypothesis that these mutations may induce significant structural and conformational changes on the native tyrosinase enzyme.

Source: Meta Gene - February 21, 2020 Category: Genetics & Stem Cells Source Type: research