(used for variant description)
(last modified May 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000771.3 in the CYP2C9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008385.1, covering CYP2C9 transcript NM_000771.3.
(upstream sequence)
. . g.5025
gtcttaacaagaagagaaggcttca c.-1
. . . . . . g.5085
ATGGATTCTCTTGTGGTCCTTGTGCTCTGTCTCTCATGTTTGCTTCTCCTTTCACTCTGG c.60
M D S L V V L V L C L S C L L L L S L W p.20
. . . . . . g.5145
AGACAGAGCTCTGGGAGAGGAAAACTCCCTCCTGGCCCCACTCCTCTCCCAGTGATTGGA c.120
R Q S S G R G K L P P G P T P L P V I G p.40
. . . . | 02 . g.8212
AATATCCTACAGATAGGTATTAAGGACATCAGCAAATCCTTAACCAAT | CTCTCAAAGGTC c.180
N I L Q I G I K D I S K S L T N | L S K V p.60
. . . . . . g.8272
TATGGCCCTGTGTTCACTCTGTATTTTGGCCTGAAACCCATAGTGGTGCTGCATGGATAT c.240
Y G P V F T L Y F G L K P I V V L H G Y p.80
. . . . . . g.8332
GAAGCAGTGAAGGAAGCCCTGATTGATCTTGGAGAGGAGTTTTCTGGAAGAGGCATTTTC c.300
E A V K E A L I D L G E E F S G R G I F p.100
. . . | 03 . . . g.8563
CCACTGGCTGAAAGAGCTAACAGAGGATTTG | GAATTGTTTTCAGCAATGGAAAGAAATGG c.360
P L A E R A N R G F G | I V F S N G K K W p.120
. . . . . . g.8623
AAGGAGATCCGGCGTTTCTCCCTCATGACGCTGCGGAATTTTGGGATGGGGAAGAGGAGC c.420
K E I R R F S L M T L R N F G M G K R S p.140
. . . . . . g.8683
ATTGAGGACCGTGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAAG c.480
I E D R V Q E E A R C L V E E L R K T K p.160
| 04 . . . . . . g.14180
G | CCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGATCTGCTCC c.540
A | S P C D P T F I L G C A P C N V I C S p.180
. . . . . . g.14240
ATTATTTTCCATAAACGTTTTGATTATAAAGATCAGCAATTTCTTAACTTAATGGAAAAG c.600
I I F H K R F D Y K D Q Q F L N L M E K p.200
. . . . | 05 . . g.15468
TTGAATGAAAACATCAAGATTTTGAGCAGCCCCTGGATCCAG | ATCTGCAATAATTTTTCT c.660
L N E N I K I L S S P W I Q | I C N N F S p.220
. . . . . . g.15528
CCTATCATTGATTACTTCCCGGGAACTCACAACAAATTACTTAAAAACGTTGCTTTTATG c.720
P I I D Y F P G T H N K L L K N V A F M p.240
. . . . . . g.15588
AAAAGTTATATTTTGGAAAAAGTAAAAGAACACCAAGAATCAATGGACATGAACAACCCT c.780
K S Y I L E K V K E H Q E S M D M N N P p.260
. . . | 06 . . g.38467
CAGGACTTTATTGATTGCTTCCTGATGAAAATGGAGAAG | GAAAAGCACAACCAACCATCT c.840
Q D F I D C F L M K M E K | E K H N Q P S p.280
. . . . . . g.38527
GAATTTACTATTGAAAGCTTGGAAAACACTGCAGTTGACTTGTTTGGAGCTGGGACAGAG c.900
E F T I E S L E N T A V D L F G A G T E p.300
. . . . . . g.38587
ACGACAAGCACAACCCTGAGATATGCTCTCCTTCTCCTGCTGAAGCACCCAGAGGTCACA c.960
T T S T T L R Y A L L L L L K H P E V T p.320
| 07 . . . . . . g.47584
G | CTAAAGTCCAGGAAGAGATTGAACGTGTGATTGGCAGAAACCGGAGCCCCTGCATGCAA c.1020
A | K V Q E E I E R V I G R N R S P C M Q p.340
. . . . . . g.47644
GACAGGAGCCACATGCCCTACACAGATGCTGTGGTGCACGAGGTCCAGAGATACATTGAC c.1080
D R S H M P Y T D A V V H E V Q R Y I D p.360
. . . . . . g.47704
CTTCTCCCCACCAGCCTGCCCCATGCAGTGACCTGTGACATTAAATTCAGAAACTATCTC c.1140
L L P T S L P H A V T C D I K F R N Y L p.380
| 08 . . . . . g.52426
ATTCCCAAG | GGCACAACCATATTAATTTCCCTGACTTCTGTGCTACATGACAACAAAGAA c.1200
I P K | G T T I L I S L T S V L H D N K E p.400
. . . . . . g.52486
TTTCCCAACCCAGAGATGTTTGACCCTCATCACTTTCTGGATGAAGGTGGCAATTTTAAG c.1260
F P N P E M F D P H H F L D E G G N F K p.420
. . . | 09 . . . g.55218
AAAAGTAAATACTTCATGCCTTTCTCAGCAG | GAAAACGGATTTGTGTGGGAGAAGCCCTG c.1320
K S K Y F M P F S A G | K R I C V G E A L p.440
. . . . . . g.55278
GCCGGCATGGAGCTGTTTTTATTCCTGACCTCCATTTTACAGAACTTTAACCTGAAATCT c.1380
A G M E L F L F L T S I L Q N F N L K S p.460
. . . . . . g.55338
CTGGTTGACCCAAAGAACCTTGACACCACTCCAGTTGTCAATGGATTTGCCTCTGTGCCG c.1440
L V D P K N L D T T P V V N G F A S V P p.480
. . . g.55371
CCCTTCTACCAGCTGTGCTTCATTCCTGTCTGA c.1473
P F Y Q L C F I P V X p.490
. . . . . . g.55431
agaagagcagatggcctggctgctgctgtgcagtccctgcagctctctttcctctggggc c.*60
. . . . . . g.55491
attatccatctttcactatctgtaatgccttttctcacctgtcatctcacattttccctt c.*120
. . . . . . g.55551
ccctgaagatctagtgaacattcgacctccattacggagagtttcctatgtttcactgtg c.*180
. . . . . . g.55611
caaatatatctgctattctccatactctgtaacagttgcattgactgtcacataatgctc c.*240
. . . . . . g.55671
atacttatctaatgttgagttattaatatgttattattaaatagagaaatatgatttgtg c.*300
. . . . . . g.55731
tattataattcaaaggcatttcttttctgcatgttctaaataaaaagcattattatttgc c.*360
g.55734
tga c.*363
(downstream sequence)
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