Not exact matches
It spans both ribosomal subunits with its amino - terminal domain positioned adjacent to the aminoacyl
acceptor stem and its carboxyl - terminal domain positioned next to the anticodon stem - loop of the P
site — bound initiator tRNA.
The tool help studying intronic and exonic mutations affecting pre-mRNA splicing signals
acceptor / donor splice
sites as well as branch points or auxiliary splicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing Silencers (ESS).
One patient had a canonical splice
acceptor site variant (c.2898 - 1G > A).