Genotyping of CYP2D6 Polymorphisms by MALDI-TOF Mass Spectrometry in Sardinian People
Table 1
List of 69 analyzed SNPs and correlation to aminoacid changes or transcriptional modificafications.
CYP2D6 SNPs
Variations
-1584C>G
—
-1426C>T
—
-1235A>G
—
-1000G>A
—
-948C>A
—
-750_-749delGA
—
-740C>T
—
-678G>A
—
19G>A
V7M
31G>A
V11M
77G>A
R26H
82C>T
—
100C>T
P34S
124G>A
G42R
137_138insT
Frameshift
214G>C (*)
—
310G>T
—
746C>G
—
843T>G
—
883G>C
Splicing defect
957C>T
A85V
974C>A
L91M
984A>G
H94R
997C>G
—
1039C>T
—
1513C>T
—
1659G>A
V136I
1661G>C
—
1704C>G
Q151E
1707delT
Frameshift
1724C>T
—
1749A>G
N166D
1757C>T
—
1758G>A
G169R
1758G>T
G169X
1846G>A
Splicing defect
1863_1864insTTTCGCCCC
174_175insFRP
1869T>C
—
1943G>A
R201H
1979T>C
—
2291G>A
—
2483G>T
A237S
2539_2542delAACT
Frameshift
2549delA
Frameshift
2575C>A
—
2587_2590delGACT
Frameshift
2615_2617delAAG
K281del
2850C>T
R296C
2853A>C
I297L
2935A>C
H324P
2939G>A
—
2988G>A
Splicing defect
3176C>T
—
3183G>A
V338M
3198C>G
R343G
3277T>C
I369T
3288G>A
—
3384A>C
—
3582A>G
—
3584G>A
—
3790C>T
—
3828G>A
—
3853G>A
E410K
3877G>A
E418K
3948T>G
—
4115C>T
—
4155C>T (°)
H478Y
4180G>C
S486T
4401C>T
—
4481G>A
—
In MALDI-TOF MS analysis, (*) 214G>C SNP was used to discriminate gene conversion to CYP2D7P in Intron 1, and (°) 4155C>T SNP was used to discriminate gene conversion to CYP2D7P in Exon 9. A = alanine; R = arginine; N = asparagine; D = aspartic acid; C = cysteine; E = glutamic acide; Q = glutamine; G = glycine; H = histidine; I = isoleucine; L = leucine; K = lysine; M = methionine; F = phenylalanine; P = proline; S = serine; T = threonine; W = tryptophan; Y = tyrosine; V = valine. In bold characters newly discovered SNPs in [5, 17, 18, 21].
