(used for mutation description)
(last modified March 2, 2012)
This file was created to facilitate the description of sequence variants in the CHKB gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_029213.1, covering CHKB transcript NM_005198.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5038
agagatctgcggaattcggccttcggaaagagcccccg c.-181
. . . . . . g.5098
ggccggggcacggagagagccgagcgccgcagccgtgagccgaatagagccggagagacc c.-121
. . . . . . g.5158
cgagtatgaccggagaagcccaggccggccggaagaggagccgagcgcggccggaaggaa c.-61
. . . . . . g.5218
ccgagcccgtccgaagggagcggagcgcagcctggcctggggcccggtcgagcccgcgcc c.-1
. . . . . . g.5278
ATGGCGGCCGAGGCGACAGCTGTGGCCGGAAGCGGGGCTGTTGGCGGCTGCCTGGCCAAA c.60
M A A E A T A V A G S G A V G G C L A K p.20
. . . . . . g.5338
GACGGCTTGCAGCAGTCTAAGTGCCCGGACACTACCCCAAAACGGCGGCGCGCCTCGTCG c.120
D G L Q Q S K C P D T T P K R R R A S S p.40
. . . . . . g.5398
CTGTCGCGTGACGCCGAGCGCCGAGCCTACCAATGGTGCCGGGAGTACTTGGGCGGGGCC c.180
L S R D A E R R A Y Q W C R E Y L G G A p.60
. . . . | 02 . . g.5658
TGGCGCCGAGTGCAGCCCGAGGAGCTGAGGGTTTACCCCGTGAG | CGGAGGCCTCAGCAAC c.240
W R R V Q P E E L R V Y P V S | G G L S N p.80
. . . . . . g.5718
CTGCTCTTCCGCTGCTCGCTCCCGGACCACCTGCCCAGCGTTGGCGAGGAGCCCCGGGAG c.300
L L F R C S L P D H L P S V G E E P R E p.100
. . . | 03 . . . g.6164
GTGCTTCTGCGGCTGTACGGAGCCATCTTGCAG | GGCGTGGACTCCCTGGTGCTAGAAAGC c.360
V L L R L Y G A I L Q | G V D S L V L E S p.120
. . . . . . g.6224
GTGATGTTCGCCATACTTGCGGAGCGGTCGCTGGGGCCCCAGCTGTACGGAGTCTTCCCA c.420
V M F A I L A E R S L G P Q L Y G V F P p.140
. . | 04. . . . g.6479
GAGGGCCGGCTGGAACAGTACATCCCA | AGTCGGCCATTGAAAACTCAAGAGCTTCGAGAG c.480
E G R L E Q Y I P | S R P L K T Q E L R E p.160
. . . . . . g.6539
CCAGTGTTGTCAGCAGCCATTGCCACGAAGATGGCGCAATTTCATGGCATGGAGATGCCT c.540
P V L S A A I A T K M A Q F H G M E M P p.180
. . . . | 05 . . g.7358
TTCACCAAGGAGCCCCACTGGCTGTTTGGGACCATGGAGCG | GTACCTAAAACAGATCCAG c.600
F T K E P H W L F G T M E R | Y L K Q I Q p.200
. . . . . . g.7418
GACCTGCCCCCAACTGGCCTCCCTGAGATGAACCTGCTGGAGATGTACAGCCTGAAGGAT c.660
D L P P T G L P E M N L L E M Y S L K D p.220
. | 06. . . . . g.7626
GAGATGGGCAACCTCAG | GAAGTTACTAGAGTCTACCCCATCGCCAGTCGTCTTCTGCCAC c.720
E M G N L R | K L L E S T P S P V V F C H p.240
. | 07 . . . . . g.7772
AATGACATCCAGGAAG | GGAACATCTTGCTGCTCTCAGAGCCAGAAAATGCTGACAGCCTC c.780
N D I Q E G | N I L L L S E P E N A D S L p.260
. . . | 08 . . g.7939
ATGCTGGTGGACTTCGAGTACAGCAGTTATAACTATAG | GGGCTTTGACATTGGGAACCAT c.840
M L V D F E Y S S Y N Y R | G F D I G N H p.280
. . . . . . g.7999
TTTTGTGAGTGGGTTTATGATTATACTCACGAGGAATGGCCTTTCTACAAAGCAAGGCCC c.900
F C E W V Y D Y T H E E W P F Y K A R P p.300
. . | 09. . . . g.8202
ACAGACTACCCCACTCAAGAACAGCAG | TTGCATTTTATTCGTCATTACCTGGCAGAGGCA c.960
T D Y P T Q E Q Q | L H F I R H Y L A E A p.320
. . . . . . g.8262
AAGAAAGGTGAGACCCTCTCCCAAGAGGAGCAGAGAAAACTGGAAGAAGATTTGCTGGTA c.1020
K K G E T L S Q E E Q R K L E E D L L V p.340
. | 10 . . . . . g.8541
GAAGTCAGTCG | GTATGCTCTGGCATCCCATTTCTTCTGGGGTCTGTGGTCCATCCTCCAG c.1080
E V S R | Y A L A S H F F W G L W S I L Q p.360
. . . | 11 . . . g.8771
GCATCCATGTCCACCATAGAATTTGGTTACTTG | GACTATGCCCAGTCTCGGTTCCAGTTC c.1140
A S M S T I E F G Y L | D Y A Q S R F Q F p.380
. . . . g.8819
TACTTCCAGCAGAAGGGGCAGCTGACCAGTGTCCACTCCTCATCCTGA c.1188
Y F Q Q K G Q L T S V H S S S X p.395
. . . . . . g.8879
ctccaccctcccactccttggatttctcctggagcctccagggcaggaccttggagggag c.*60
. . . . . . g.8939
gaacaacgagcagaaggccctggcgactgggctgagcccccaagtgaaactgaggttcag c.*120
. . . . . . g.8999
gagaccggcctgttcctgagtttgagtaggtccccatggctggcaggccagagccccgtg c.*180
. . . . g.9042
ctgtgtatgtaacacaataaacaagcttcttcttcccaccctg c.*223
(downstream sequence)
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