part 1 Flashcards
Gene mutations in intron
rarely has effect
gene mutation in promotor
may affect transcription efficacy
gene mutation in exon
may affect protein composition
gene mutation in splice site
may affect splicing
Base pair mutations: -1 frameshift
protein truncation leads to (partial) loss of function
base pair mutations: nonsense mutation
protein truncation leads to (partial) loss of function
base pair mutations: missense mutation
non-synonymous amino-acid change leads to (partial) loss of function
proto-oncogenes
once activated become oncogenes
only 1 allele needs to be promo-oncogene bc phenotype is dominant
gain of function in coding mutation
leads to abnormal protein
gain of function in regulatory mutation
leads to excessive amounts of protein
gain of function in translocation gene
leads to novel protein
gain of function in gene amplification
leads to excessive amounts of protein
RAS bound to GDP
inactive
RAS activated by
GEF (exchanges GDP for GTP)
RAS bound to GTP
active
