Genetic Variants in Upstream and Downstream Regions of Novel Genes
This document discusses multiple genetic variants, including mutations like p.Ile70Val and p.Leu847Argfs*83, that occur in the 5' and 3' untranslated regions (UTRs) of specific genes. Additionally, it highlights various coding sequence alterations, such as p.Thr412Asnfs*2, and their potential impacts on protein function. The analysis encompasses a comprehensive review of the genetic landscape, providing insights into gene expression regulation and potential implications for genetic disorders. The variation details are explored across multiple relevant gene constructs.
Genetic Variants in Upstream and Downstream Regions of Novel Genes
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Presentation Transcript
A. p.Ile70Val 5’UTR p.Leu847Argfs*83 3’UTR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 p.Thr412Asnfs*2 5’UTR 3’UTR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 S P EC1 EC2 EC3 EC4 EA TM IA ICS 5’UTR 3’UTR S P EC1 EC2 EC3 EC4 EA TM IA ICS LD RUD TD 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 B. C.