Copy Number Variation

Question	Answer
Activating Mutation	Gain of function
Deactivating mutation	Loss of function
Nucleotide substitution	Change of one aa to another through mutation
Nucleotide substitution in Hereditary Haemachromatosis	17A>T
Synonymous Mutation	Change of base doesn't change aa coded for
Missense Mutation	Mutation resulting in amino acid change
Nonsense mutation	Generation of a premature stop codon
Nucleotide deletions/insertions	Loss/gain of nucleotides that cause a FRAME SHIFT AHHHHHHHHHHHHHH
Splicing Mutations	Mutations in splicing machinery that alters exon splicing
Copy Number Variation	Deviation from normal copy number (more or less) Can be few bp long, can be whole chromosomes
Genomic Disorders	Copy Number Variation Linked Disorders
DiGeorge Syndrome	Caused by 1.5 million base pair deletion on chromosome 22
CNV Occurence	Much higher than standard mutation rates
Gene disruption	Where parts of gene are missing
Gene fusion	Where area between genes is deleted causing both to be transcribed together
Revealing positional effects	Position becomes homozygous, could effect regulation elsewhere

Resource summary

	Created by gina_evans0312 over 10 years ago