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DNA repair
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Point mutations
change of a single nucleotide
Point mutation effect on protein
can be silent, missense (change of aa), or nonsense (stop codon)
Insertions
addition of one or more nucleotides
Insertions effect on protein
Frameshift if not multiple of 3 (1 is worst), alters downstream amino acids
Deletion
loss of one or more nucleotide
deletion effect on protein
frameshift if not multiple of 3 (1 is worst)
duplication
repetition of DNA segment
Duplication effect on protein
can cause protein overexpression or dysfunction
inversion
segment of DNA that breaks, flips, then reinserts
Inversion effect on protein
may disrupt gene regulation or function
translocation
DNA segment moves to another chromosome
Translocation effect on protein
can create fusion genes