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/Hom....o_sapiens/Transcript
https://gnomad.broadinstitute.....org/gene/ENSG0000009
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/share....d/refseq/FH_NM_00014
Sources:
https://upload.wikimedia.org/w....ikipedia/commons/4/4
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