|
CYP1B1 allele nomenclature
Allele
|
Protein
|
Nucleotide changes,
gene
|
Trivial name
|
Effect
|
Enzyme activity
|
References
|
In vivo
|
In vitro
|
CYP1B1*1
|
CYP1B1.1
|
None
|
Wild-type
|
|
Normal
|
Normal
|
Tang
et al, 1996
|
CYP1B1*2
|
CYP1B1.2
|
142C>G; 355G>T
|
|
R48G; A119S
|
|
|
Stoilov
et al, 1998
McLellan
et al, 2000
|
CYP1B1*3
|
CYP1B1.3
|
4326C>G
|
|
L432V
|
|
|
Stoilov
et al, 1998
Bailey
et al, 1998
|
CYP1B1*4
|
CYP1B1.4
|
4390A>G
|
|
N453S
|
|
|
Stoilov
et al, 1998
Bailey
et al, 1998
|
CYP1B1*5
|
CYP1B1.5
|
142C>G; 4326C>G
|
|
R48G; L432V
|
|
|
Aklillu
et al, 2002
|
CYP1B1*6
|
CYP1B1.6
|
142C>G; 355G>T; 4326C>G
|
|
R48G; A119S; L432V
|
|
|
Aklillu
et al, 2002
|
CYP1B1*7
|
CYP1B1.7
|
142C>G; 355G>T; 4326C>G; 4360C>G
|
|
R48G; A119S; L432V; A443G
|
|
|
Aklillu
et al, 2002
|
CYP1B1*8
|
CYP1B1.8
|
4326C>G; 4353G>C;
4379C>T
|
|
L432V; D441H
|
|
|
Rahman
et al., unpublished
|
CYP1B1*9
|
|
|
|
|
|
|
|
CYP1B1*10
|
|
|
|
|
|
|
|
CYP1B1*11
|
CYP1B1.11
|
171G>C
|
a
|
W57C
|
|
|
Stoilov
et al, 1998
|
CYP1B1*12
|
CYP1B1.12
|
182G>A
|
b
|
G61E
|
|
|
Stoilov
et al, 1998
|
CYP1B1*13
|
|
501_502insT
|
c
|
167Frameshift
|
|
|
Stoilov
et al, 1998
|
CYP1B1*14
|
|
841G>T
|
d
|
E281X
|
|
|
Stoilov
et al, 1998
|
CYP1B1*15
|
|
863_864insC
|
e
|
288Frameshift
|
|
|
Stoilov
et al, 1997
|
CYP1B1*16
|
|
Large
deletion
|
f
|
Splicing
defect
|
|
|
Stoilov
et al, 1997
|
CYP1B1*17
|
|
4096_4108del
|
g
|
355Frameshift
|
|
|
Stoilov
et al, 1997
|
CYP1B1*18
|
CYP1B1.18
|
4125G>T
|
h
|
G365W
|
|
|
Stoilov
et al, 1998
|
CYP1B1*19
|
CYP1B1.19
|
4168C>T
|
i
|
P379L
|
|
|
Stoilov
et al, 1998
|
CYP1B1*20
|
CYP1B1.20
|
4191G>A
|
j
|
E387K
|
|
|
Stoilov
et al, 1998
|
CYP1B1*21
|
CYP1B1.21
|
4201G>A
|
k
|
R390H
|
|
|
Stoilov
et al, 1998
|
CYP1B1*22
|
|
4232_4241dup
|
l
|
404Frameshift
|
|
|
Stoilov
et al, 1998
|
CYP1B1*23
|
CYP1B1.23
|
4342C>T
|
m
|
P437L
|
|
|
Stoilov
et al, 1998
|
CYP1B1*24
|
|
4377delG
|
n
|
449Frameshift
|
|
|
Stoilov
et al, 1998
|
CYP1B1*25
|
CYP1B1.25
|
4437C>T
|
o
|
R469W
|
|
|
Stoilov
et al, 1998
|
CYP1B1*26
|
|
4435_4461dup
|
p
|
477Frameshift
|
|
|
Stoilov
et al, 1998
|
Additional
SNPs, where the haplotype has not yet been determined
|
|
|
c.171G>A
|
|
W57X
|
|
|
Prokudin
et al., 2013
|
|
|
c.868insC
|
|
290Frameshift
|
|
|
Prokudin
et al., 2013
|
|
|
c.241T>A
|
|
Y81N
|
|
|
Prokudin
et al., 2013
|
|
|
c.685G>A
|
|
E229K
|
|
|
Prokudin
et al., 2013
|
|
|
c.1103G>A
|
|
R368H
|
|
|
Prokudin
et al., 2013
|
Changes made since the last update
(21-Jan-2014) are marked in red.
Links to the NCBI dbSNP homepage are available for
functional 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
|