COMT Polymorphisms

1
COMT Polymorphisms
Val158Met
Ala102Thr
I/D
CAU
AA
Allele frequency lt1
Allele frequency 1-10
Allele frequency gt10
Not seen in this population
2
COMT Polymorphisms
Val158Met
Ala72Ser
Ala102Thr
I/D
CA
AA
NCBI








MB
SOL
Allele frequency lt1
Allele frequency 1-10
Allele frequency gt10
NCBI previously published

3
Gene Structure
COMT gene
150bp
MB
SOL
408bp
4.23kb
760bp
1237bp
19.2kb
111bp
91bp
289bp
131bp
193bp
479bp
mRNA (MB)
MB
mRNA (S)
SOL
4
COMT Polymorphisms
Frequency of
Frequency of
Variant Allele Caucasian
Variant Allele African-American
Amino Acid Change
Nucleotide
Sequence Change
Location
-71 186 219 304 408 438 472 I4(69) 597 609 I5(82
) 820 975 D23
Exon 1 Exon 2 Exon 3 Exon 3 Exon 4 Exon 4 Exon
4 Exon 4 Intron 4 Exon 5 Exon 5 Intron
5 3-UTR 3-UTR 3-FR
C ? G C ? T G ? A G ? A C ? G C ? T G ? A T
?G G ? A C ?T G ? C Deletion G ? A C ? G
Ala102Thr Val158Met
12 0.033 0.333 0.150 0.025 0.258 0.050 0.300 0.0
00 0.125 0.000 0.133 0.567 0.042 0.283
55 0.000 0.417 0.017 0.000 0.492 0.000 0.425 0.0
08 0.025 0.008 0.125 0.225 0.000 0.025
5
COMT Intron 2 Polymorphisms
CAU
AA
NCBI
X3
X2
X3
ERE5
ERE4
ERE3(-)
ERE2
ERE1
promoter
l Variant Allele Caucasian
l Variant Allele African-American
Core binding site
Nucleotide
Sequence Change
Location
I2(51) I2(56) I2(201) I2(401) I2(521) I2(602) I2(6
14) I2(832) I2(935) I2(1140)
Intron 2 Intron 2 Intron 2 Intron 2 Intron
2 Intron 2 Intron 2 Intron 2 Intron 2 Intron 2
C ? G G ? A T ?C G ? A G ? A G ? A C ? A C ? G T
? C G ? A
0.600 0.033 0.458 0.000 0.008 0.000 0.017 0.617 0
.075 0.617
0.550 0.000 0.558 0.008 0.000 0.008 0.000 0.500 0
.017 0.492
TCFII SP1 AP1 PADS