International Scholarly Research Notices / 2013 / Article / Tab 1

Research Article

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 SNPsVariations

-1584C>G
-1426C>T
-1235A>G
-1000G>A
-948C>A
-750_-749delGA
-740C>T
-678G>A
19G>AV7M
31G>AV11M
77G>AR26H
82C>T
100C>TP34S
124G>AG42R
137_138insTFrameshift
214G>C (*)
310G>T
746C>G
843T>G
883G>CSplicing defect
957C>TA85V
974C>AL91M
984A>GH94R
997C>G
1039C>T
1513C>T
1659G>AV136I
1661G>C
1704C>GQ151E
1707delTFrameshift
1724C>T
1749A>GN166D
1757C>T
1758G>AG169R
1758G>TG169X
1846G>ASplicing defect
1863_1864insTTTCGCCCC174_175insFRP
1869T>C
1943G>AR201H
1979T>C
2291G>A
2483G>TA237S
2539_2542delAACTFrameshift
2549delAFrameshift
2575C>A
2587_2590delGACTFrameshift
2615_2617delAAGK281del
2850C>TR296C
2853A>CI297L
2935A>CH324P
2939G>A
2988G>ASplicing defect
3176C>T
3183G>AV338M
3198C>GR343G
3277T>CI369T
3288G>A
3384A>C
3582A>G
3584G>A
3790C>T
3828G>A
3853G>AE410K
3877G>AE418K
3948T>G
4115C>T
4155C>T (°)H478Y
4180G>CS486T
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].

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