(used for variant description)
(last modified June 15, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000498.3 in the CYP11B2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008374.1, covering CYP11B2 transcript NM_000498.3.
(upstream sequence)
g.5003
gga c.-1
. . . . . . g.5063
ATGGCACTCAGGGCAAAGGCAGAGGTGTGCGTGGCAGCGCCCTGGCTGTCCCTGCAAAGG c.60
M A L R A K A E V C V A A P W L S L Q R p.20
. . . . . . g.5123
GCACGGGCACTGGGCACTAGAGCCGCTCGGGCCCCTAGGACGGTGCTGCCGTTTGAAGCC c.120
A R A L G T R A A R A P R T V L P F E A p.40
. . . . . . g.5183
ATGCCCCAGCATCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGT c.180
M P Q H P G N R W L R L L Q I W R E Q G p.60
. . . . . | 02 g.5630
TATGAGCACCTGCACCTGGAGATGCACCAGACCTTCCAGGAGCTGGGGCCCATTTTCAG | G c.240
Y E H L H L E M H Q T F Q E L G P I F R | p.80
. . . . . . g.5690
TACAACTTGGGAGGACCACGCATGGTGTGTGTGATGCTGCCGGAGGATGTGGAGAAGCTG c.300
Y N L G G P R M V C V M L P E D V E K L p.100
. . . . . . g.5750
CAACAGGTGGACAGCCTGCATCCCTGCAGGATGATCCTGGAGCCCTGGGTGGCCTACAGA c.360
Q Q V D S L H P C R M I L E P W V A Y R p.120
. . . | 03 . . . g.7623
CAACATCGTGGGCACAAATGTGGCGTGTTCTTGTT | GAATGGGCCTGAATGGCGCTTCAAC c.420
Q H R G H K C G V F L L | N G P E W R F N p.140
. . . . . . g.7683
CGATTGCGGCTGAACCCAGATGTGCTGTCGCCCAAGGCCGTGCAGAGGTTCCTCCCGATG c.480
R L R L N P D V L S P K A V Q R F L P M p.160
. . . . . . g.7743
GTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCC c.540
V D A V A R D F S Q A L K K K V L Q N A p.180
. . . . . | 04 . g.7940
CGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTACACCATAGAAG | CCAGC c.600
R G S L T L D V Q P S I F H Y T I E A | S p.200
. . . . . . g.8000
AACTTAGCTCTTTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTTCTGCCAGC c.660
N L A L F G E R L G L V G H S P S S A S p.220
. . . . . . g.8060
CTGAACTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATG c.720
L N F L H A L E V M F K S T V Q L M F M p.240
. . . . . . g.8120
CCCAGGAGCCTGTCTCGCTGGATCAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGG c.780
P R S L S R W I S P K V W K E H F E A W p.260
. | 05 . . . . g.8466
GACTGCATCTTCCAGTACG | GTGACAACTGTATCCAGAAAATCTACCAGGAACTGGCCTTC c.840
D C I F Q Y G | D N C I Q K I Y Q E L A F p.280
. . . . . . g.8526
AACCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTGAAGGCGGAACTGTCA c.900
N R P Q H Y T G I V A E L L L K A E L S p.300
. . . . . | 06 . g.9398
CTAGAAGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGCGTGGACACG | ACAGCG c.960
L E A I K A N S M E L T A G S V D T | T A p.320
. . . . . . g.9458
TTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCGACGTGCAGCAGATCCTG c.1020
F P L L M T L F E L A R N P D V Q Q I L p.340
. . . . . . g.9518
CGCCAGGAGAGCCTGGCCGCCGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAACCACC c.1080
R Q E S L A A A A S I S E H P Q K A T T p.360
. . . . | 07 . . g.9977
GAGCTGCCCTTGCTGCGGGCGGCCCTCAAGGAGACCTTGCG | GCTCTACCCTGTGGGTCTG c.1140
E L P L L R A A L K E T L R | L Y P V G L p.380
. . . . . . g.10037
TTTTTGGAGCGAGTGGTGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGG c.1200
F L E R V V S S D L V L Q N Y H I P A G p.400
| 08 . . . . . . g.10176
| ACATTGGTACAGGTTTTCCTCTACTCGCTGGGTCGCAATGCCGCCTTGTTCCCGAGGCCT c.1260
| T L V Q V F L Y S L G R N A A L F P R P p.420
. . . . . . g.10236
GAGCGGTATAATCCCCAGCGCTGGCTAGACATCAGGGGCTCCGGCAGGAACTTCCACCAC c.1320
E R Y N P Q R W L D I R G S G R N F H H p.440
. . . . . . g.10296
GTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTCGGGCGGCGCCTGGCAGAGGCAGAGATG c.1380
V P F G F G M R Q C L G R R L A E A E M p.460
. | 09 . . . . g.10792
CTGCTGCTGCTGCACCAC | GTGCTGAAGCACTTCCTGGTGGAGACACTAACTCAAGAGGAC c.1440
L L L L H H | V L K H F L V E T L T Q E D p.480
. . . . . . g.10852
ATAAAGATGGTCTACAGCTTCATATTGAGGCCTGGCACGTCCCCCCTCCTCACTTTCAGA c.1500
I K M V Y S F I L R P G T S P L L T F R p.500
. g.10864
GCGATTAACTAG c.1512
A I N X p.503
. . . . . . g.10924
tcttgcatctgcacccagggtcccagcctggccaccagcttccctctgcctgaccccagg c.*60
. . . . . . g.10984
ccacctgtcttctctcccacgtgcacagcttcctgagtcacccctctgtccagccagctc c.*120
. . . . . . g.11044
ctgcacaaatggaactccccagggcctccaggactggggcttgccaggcttgtcaaatag c.*180
. . . . . . g.11104
caaggccagggcacagctggagacgatcttgctggcagggcctggccttgtccccagctc c.*240
. . . . . . g.11164
cacctggccccttctccagcaagcagtgccctctggacagcttgactctactcccagcgc c.*300
. . . . . . g.11224
tggctccaggctcctcatgaggccatgcaagggtgctgtgattttgtcccttgccttcct c.*360
. . . . . . g.11284
gcctagtctcacatgtccctgtccctctcgccctggccagggcctctgtgcagacagtgt c.*420
. . . . . . g.11344
cagagtcattaagcgggatcccagcatctcagagtccagtcaagttccctcctgcagcct c.*480
. . . . . . g.11404
gaccccaggcagctcgagcatgccctgagctctctgaaagttgtcaccctggaatacgat c.*540
. . . . . . g.11464
cctgcagggtagactaaaaaggcccctgtggtcacttatcctgacacattttcaagtgat c.*600
. . . . . . g.11524
acaactgagtctcgaggggcgtgtgttccccagctgatcatgtcagcctcatgccccagg c.*660
. . . . . . g.11584
cctcgtctttcatggaccaggtcttgttcaagcagcgagtgttgggtcctctgcttcctg c.*720
. . . . . . g.11644
agctgtcccctggagaaggtcccgaggatgctgtcaggagatggaagagtcatgtggggt c.*780
. . . . . . g.11704
gggaacctggggtgtggttccagaaatgtttttggcaacaggagagacaggattgggcca c.*840
. . . . . . g.11764
acaaggactcagatgagttttattgactcattcctctggttgatacggagccatgtcatg c.*900
. . . . . . g.11824
tgccacgacctggggtgggcacagggaggctgcagttccctacgtgaacctgccttgggc c.*960
. . . . . . g.11884
ctcatctgctcctagcccagcagagagagttgacccctcctgaactggccactccccagt c.*1020
. . . . . . g.11944
gctcctgtgcagggataggaagtgccccagggtgagaacgtgcccagccacatcatcttt c.*1080
. . . . . . g.12004
atctcctgggattttcattagggcaaagatctcagcagccagctcctggtagctgatgag c.*1140
. . . . . . g.12064
gatcagagcgtttgttcccccatgaaaggggaaatacttaggtaatcattccaggtgtgt c.*1200
. . . . . . g.12124
tcagtagttccaggactcagggactcaggccagtcaccctgtgaccgcaggttgctttcc c.*1260
. . . . . . g.12184
caccctgggcaatgcagtgcagcatgggaaaggaataagggggcaacaaggtgcacagac c.*1320
. . . . . . g.12244
ctcagagatggcttccttgtttatggggctctcacagatacccatccaactcctctagtc c.*1380
. . . . g.12285
agcactagatcatgggatcctaaaataaaccttggaaaaat c.*1421
(downstream sequence)
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