Genetic Mutations Explained - HLRCC science lecture #2 скачать в хорошем качестве

Genetic Mutations Explained - HLRCC science lecture #2

In this video I discuss how mistakes in your genetic code (mutations) result in in the creation dysfunctional proteins. Special thanks to Dr. Christian Frezza for reviewing this video for accuracy. Timestamps: 00:00 Introduction/summary of genes/proteins 01:17 Germline vs. Somatic Mutations 02:48 How to decipher the code 03:23 Point mutations explained 03:43 Silent mutations 05:08 Missence mutations 07:04 Nonsense mutations (premature stop signal) 08:40 Deletion/insertion/frameshift mutations 11:05 Inversion mutations 11:40 Duplication mutations 12:45 Intron mutation introduction 14:45 Different variations/effects of intro mutations 16:49 UTR mutations 17:39 Total gene deletion 18:57 Variant of Unknown Significance 20:26 Variant Databases 21:57 Looking up your own mutation and where it is in coding sequence/protein Variant Databases https://useast.ensembl.org/Homo_sapie... https://gnomad.broadinstitute.org/gen... https://varsome.com/gene/FH https://databases.lovd.nl/shared/vari... 3D FH protein: https://www.ncbi.nlm.nih.gov/Structur... Exon sequences: http://databases.lovd.nl/shared/refse... Sources: https://upload.wikimedia.org/wikipedi...