MS2: Diseases and Disease Mechanisms Associated with C-terminal Variants
Poster Presentation (video):
Presenter: Zachary Fitzhugh
Authors: Zachary Fitzhugh, Xiaogang Wu, and Martin R. Schiller
Mentor(s): Dr. Martin Schiller
Abstract: All proteins end with a carboxylic acid commonly called the C-terminus. Many short functional sequences (minimotifs) are located on or immediately proximal to the C-terminus. Herein, we explore the presence of variants across human C-termini. We found over 300 pathogenic missense variants and over 23,000 pathogenic nonsense variants on the C-termini associated with nearly 300 human disorders. Of these, there were 129 cases where the modified residue of a C-terminal post-translational modification was lost due to a missense variant. Coding sequences and their C-termini were identified with a custom Python program and are from NCBI’s RefSeq Reference Genome Annotation.