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_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000091483;r=1:241497603-241519755;t=ENST00000366560 https://gnomad.broadinstitute.org/gene/ENSG00000091483?dataset=gnomad_r2_1 https://varsome.com/gene/FH https://databases.lovd.nl/shared/variants/FH/unique#object_id=VariantOnTranscriptUnique%2CVariantOnGenome&id=FH&order=VariantOnTranscript%2FDNA%2CASC&search_transcriptid=00007945&page_size=250&page=1 3D FH protein: https://www.ncbi.nlm.nih.gov/Structure/icn3d/full.html?&mmdbid=142242&bu=1&showanno=1&source=full-feature Exon sequences: http://databases.lovd.nl/shared/refseq/FH_NM_000143.3_codingDNA.html Sources: https://upload.wikimedia.org/wikipedia/commons/4/4f/Amino_Acids-wide.svg