CYP2C19 allele nomenclature
|
Allele
|
Protein
|
Nucleotide
changes
|
Trivial name
|
Effect
|
Enzyme activity
|
References
|
|
cDNA
|
Gene*
*To
be considered CYP2C19*1A, the genomic reference sequence must be changed to
-1041G, 99C and 80161A.
|
In_vivo
|
In_vitro
|
|
CYP2C19*1A
|
CYP2C19.1A
|
None
|
None
|
|
None
|
Normal
|
Normal
|
Romkes et al, 1991
|
|
CYP2C19*1B
|
CYP2C19.1B
|
99C>T; 991A>G
|
99C>T; 80161A>G
|
|
I331V
|
Normal
|
|
Richardson
et al, 1997
|
|
CYP2C19*1C
|
CYP2C19.1B
|
991A>G
|
80161A>G
|
|
I331V
|
Normal
|
|
Blaisdell et al, 2002
|
|
CYP2C19*2A
|
|
99C>T; 681G>A; 990C>T;
991A>G
|
99C>T; 19154G>A; 80160C>T;
80161A>G
|
m1; m1A
|
Splicing
defect; I331V
|
None
|
|
de Morais et al, 1994a
|
|
CYP2C19*2B
|
|
99C>T; 276G>C; 681G>A; 990C>T; 991A>G
|
99C>T; 12460G>C; 19154G>A; 80160C>T; 80161A>G
|
m1B
|
E92D; splicing
defect; I331V
|
None
|
|
Ibeanu et al, 1998b
|
|
CYP2C19*2C
(also called CYP2C19*21)
|
|
99C>T; 481G>C;
681G>A; 990C>T; 991A>G
|
-98T>C;
99C>T; 12122G>A;
12662A>G;
12834G>C; 19154G>A; 19520A>G;
57740C>G;
79936T>A;
80160C>T; 80161A>G
|
|
A161P,
splicing
defect, I331V
|
|
|
Fukushima-Uesaka et al., 2005
|
|
CYP2C19*2D
|
|
99C>T; 681G>A; 990C>T; 991A>G; 1213G>A
|
-98T>C;
99C>T; 12662A>G;
19154G>A; 57740C>G;
80160C>T; 80161A>G; 87275G>A
|
|
splicing
defect, E405K
|
|
|
Lee
et al., 2009
|
|
CYP2C19*3A
|
|
636G>A; 991A>G; 1251A>C
|
17948G>A; 80161A>G;
87313A>C
|
m2
|
W212X; I331V
|
None
|
|
de Morais et al, 1994b
|
|
CYP2C19*3B
(also called CYP2C19*20)
|
|
636G>A; 991A>G; 1078G>A;
1251A>C
|
-889T>G;
12013T>G;
12122G>A;
12306G>A;
13166T>C;
17948G>A; 18911A>G;
80161A>G;
80248G>A;
87313A>C
|
|
W212X; D360N;
I331V
|
None
|
|
Fukushima-Uesaka et al., 2005
|
|
CYP2C19*4A
|
|
1A>G; 99C>T, 991A>G
|
1A>G; 99C>T; 80161A>G
|
m3
|
GTG
initiation codon; I331V
|
None
|
|
Ferguson
et al, 1998
|
|
CYP2C19*4B
|
|
1A>G; 99C>T, 991A>G
|
-3402C>T; -806C>T; 1A>G; 99C>T; 80161A>G
|
|
GTG initiation codon; I331V
|
None
|
|
Scott et al., 2011
Zackrisson et al.,
2010
|
|
CYP2C19*5A
|
CYP2C19.5A
|
1297C>T
|
90033C>T
|
m4
|
R433W
|
None
|
None
|
Xiao et al, 1997
Ibeanu et al, 1998a
|
|
CYP2C19*5B
|
CYP2C19.5B
|
99C>T; 991A>G; 1297C>T
|
99C>T; 80161A>G;
90033C>T
|
|
I331V; R433W
|
None
|
|
Ibeanu et al, 1998a
|
|
CYP2C19*6
|
CYP2C19.6
|
99C>T; 395G>A;
991A>G
|
99C>T; 12748G>A;
80161A>G
|
m5
|
R132Q; I331V
|
None
|
None
|
Ibeanu et al, 1998b
|
|
CYP2C19*7
|
|
|
19294T>A
|
|
Splicing
defect
|
None
|
|
Ibeanu et al, 1999
|
|
CYP2C19*8
|
CYP2C19.8
|
358T>C
|
12711T>C
|
|
W120R
|
None
|
Decr
|
Ibeanu et al, 1999
|
|
CYP2C19*9
|
CYP2C19.9
|
99C>T; 431G>A;
991A>G
|
99C>T; 12784G>A;
80161A>G
|
|
R144H; I331V
|
|
(Decr)
|
Blaisdell et al, 2002
|
|
CYP2C19*10
|
CYP2C19.10
|
99C>T; 680C>T;
991A>G
|
99C>T;
19153C>T;
80161A>G
|
|
P227L; I331V
|
|
Decr
|
Blaisdell et al, 2002
|
|
CYP2C19*11
|
CYP2C19.11
|
99C>T; 449G>A;
991A>G
|
99C>T; 12802G>A;
80161A>G
|
|
R150H;
I331V
|
|
|
Blaisdell et al, 2002
|
|
CYP2C19*12
|
CYP2C19.12
|
99C>T; 991A>G; 1473A>C
|
99C>T; 80161A>G;
90209A>C
|
|
I331V; X491C; 26
extra aa
|
|
Unstable
|
Blaisdell et al, 2002
|
|
CYP2C19*13
|
CYP2C19.13
|
991A>G; 1228C>T
|
80161A>G;
87290C>T
|
|
I331V; R410C
|
|
|
Blaisdell et al, 2002
|
|
CYP2C19*14
|
CYP2C19.14
|
50T>C;
99C>T; 991A>G
|
50T>C;
99C>T; 80161A>G
|
|
L17P; I331V
|
|
|
Blaisdell et al, 2002
|
|
CYP2C19*15
|
CYP2C19.15
|
55A>C; 991A>G
|
55A>C; 80161A>G
|
|
I19L; I331V
|
|
|
Blaisdell et al, 2002
|
|
CYP2C19*16
|
CYP2C19.16
|
1324C>T
Existence
of the CYP2C19*2 polymorphism 681G>A on the same
allele can not be excluded
|
90060C>T
|
|
R442C
|
|
|
Morita et al, 2004
|
|
CYP2C19*17
|
CYP2C19.1B
|
99C>T; 991A>G
|
-3402C>T;
-806C>T; 99C>T; 80161A>G
|
|
I331V
|
Incr.
|
Incr. transcr.
|
Sim et al., 2006
Rudberg et al., 2007
Sibbing et al.,
2010
|
|
CYP2C19*18
|
CYP2C19.18
|
99C>T; 986G>A;
991A>G
|
99C>T; 80156G>A;
80161A>G;
87106T>C
|
|
R329H;
I331V
|
|
|
Fukushima-Uesaka et al., 2005
|
|
CYP2C19*19
|
CYP2C19.19
|
99C>T;
151A>G; 991A>G
|
99C>T;
151A>G; 80161A>G;
87106T>C
|
|
S51G; I331V
|
|
|
Fukushima-Uesaka et al., 2005
|
|
CYP2C19*20
|
See CYP2C19*3B
|
|
CYP2C19*21
|
See CYP2C19*2C
|
|
CYP2C19*22
|
CYP2C19.22
|
557G>C;
991A>G
|
17869G>C;
80161A>G
|
|
R186P;
I331V
|
|
|
Matimba et al., 2009
|
|
CYP2C19*23
|
CYP2C19.23
|
99C>T; 271G>C;
991A>G
|
99C>T; 12455G>C;
80161A>G
|
|
G91R; I331V
|
|
|
Zhou
et al., 2009
|
|
CYP2C19*24
|
CYP2C19.24
|
99C>T; 991A>G; 1004G>A;
1197A>G
|
99C>T; 80161A>G; 80174G>A;
87259A>G
|
|
I331V; R335Q
|
|
|
Zhou
et al., 2009
|
|
CYP2C19*25
|
CYP2C19.25
|
99C>T; 991A>G; 1344C>G
|
99C>T; 80161A>G; 90080C>G
|
|
I331V; F448L
|
|
|
Zhou
et al., 2009
|
|
CYP2C19*26
|
CYP2C19.26
|
99C>T;
766G>A; 991A>G
|
99C>T;
19239G>A; 80161A>G
|
|
D256N; I331V
|
|
|
Lee et al., 2009
|
|
CYP2C19*27
|
CYP2C19.1B
|
991A>G
|
-1041G>A; 80161A>G
|
|
I331V
|
|
Decr. expr.
|
Drögemöller et al.,
2010
|
|
CYP2C19*28
(Preliminary)
|
CYP2C19.28
|
55A>C; 991A>G; 1120G>A
|
-2030C>T;
-2020C>A;
-1439T>C;
55A>C; 80161A>G; 80290G>A
|
|
I19L; I331V; V374I
|
|
|
Drögemöller et al.,
2010
|
|
Additional SNPs, where the haplotype has
not yet been determined
|
|
|
|
221T>C
|
|
|
M74T
|
|
|
Solus et al., 2004
|
|
|
|
502T>C
|
|
|
F168L
|
|
|
Solus et al., 2004
|
|
|
|
337G>A
|
|
|
V113I
|
|
|
Matimba et al., 2009
|
|
|
|
905C>G
|
|
|
T302R
|
|
|
Chen
et al., 2008
|
|
|
|
1180G>A
|
|
|
V394M
|
|
|
Lee et al., 2009
|
|
|
|
183T>C
|
|
|
|
|
|
Drögemöller et al.,
2010
|
|
|
|
|
-1418C>T
|
|
|
|
|
Drögemöller et al.,
2010
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Changes
made since the last update (24-Aug-2010) are marked in red.
Allele frequencies:
Xie et al., 2001; Mizutani, 2003; Solus et al., 2004
Links to the NCBI dbSNP homepage are
available for SNPs when present in NCBI's database.
Nucleotide variations in bold
are the major SNPs/alterations responsible for the phenotype of the
corresponding allele.
OMIM GeneCards
|