Page 74 - Clinical Biochemistry 08PB804
P. 74

Figure 42: SNPs

Different types of SNP
• Outside genes : no impact.
• In the genes coding sequence.
• change of base but not of amino acid (GCA and GCC both code for alanine).
• change of amino acid: more or less impressive modification of function (loss or gain).
• In the promoter region : ↑ or ↓ transcription of the gene and protein expression.
• In the mRNA 3’-untranslated region : ↑ (or ↓) sensitivity to miRNA (that inhibit translation
and destabilize mRNA).
SNPs may / may not alter protein structure
   69   70   71   72   73   74   75   76   77   78   79