D1 . 3
Gene Mutations -
structural change on
genes
↑
Substitution mutation (single-nucleotide polymorphisms
·
most common SNPs]
·
I base replaced by another
D
=>
synonymous/silence mutation :
:
degeneracy
eg
. ACU - ACA
Thr Thr Frameshift
=> Non-synonymous :
mutation
eg
.
UGG >
-
WGA
TrP Stop
& &
Insertion :
Deletion
loss function
·
one or more ·
one or more
=>
Change in protein structure >
-
addition bases deleted base active site
. enzyme
eg
↳ codon
change to stop =>
end early => X function
↳ change to others -> effect the rest
Gene Mutations -
structural change on
genes
↑
Substitution mutation (single-nucleotide polymorphisms
·
most common SNPs]
·
I base replaced by another
D
=>
synonymous/silence mutation :
:
degeneracy
eg
. ACU - ACA
Thr Thr Frameshift
=> Non-synonymous :
mutation
eg
.
UGG >
-
WGA
TrP Stop
& &
Insertion :
Deletion
loss function
·
one or more ·
one or more
=>
Change in protein structure >
-
addition bases deleted base active site
. enzyme
eg
↳ codon
change to stop =>
end early => X function
↳ change to others -> effect the rest
