(used for variant description)
(last modified July 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000024.5 in the ADRB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016421.1, covering ADRB2 transcript NM_000024.5.
(upstream sequence)
. . . . . g.5059
gcacataacgggcagaacgcactgcgaagcggcttcttcagagcacgggctggaactgg c.-181
. . . . . . g.5119
caggcaccgcgagcccctagcacccgacaagctgagtgtgcaggacgagtccccaccaca c.-121
. . . . . . g.5179
cccacaccacagccgctgaatgaggcttccaggcgtccgctcgcggcccgcagagccccg c.-61
. . . . . . g.5239
ccgtgggtccgcccgctgaggcgcccccagccagtgcgctcacctgccagactgcgcgcc c.-1
. . . . . . g.5299
ATGGGGCAACCCGGGAACGGCAGCGCCTTCTTGCTGGCACCCAATAGAAGCCATGCGCCG c.60
M G Q P G N G S A F L L A P N R S H A P p.20
. . . . . . g.5359
GACCACGACGTCACGCAGCAAAGGGACGAGGTGTGGGTGGTGGGCATGGGCATCGTCATG c.120
D H D V T Q Q R D E V W V V G M G I V M p.40
. . . . . . g.5419
TCTCTCATCGTCCTGGCCATCGTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAAG c.180
S L I V L A I V F G N V L V I T A I A K p.60
. . . . . . g.5479
TTCGAGCGTCTGCAGACGGTCACCAACTACTTCATCACTTCACTGGCCTGTGCTGATCTG c.240
F E R L Q T V T N Y F I T S L A C A D L p.80
. . . . . . g.5539
GTCATGGGCCTGGCAGTGGTGCCCTTTGGGGCCGCCCATATTCTTATGAAAATGTGGACT c.300
V M G L A V V P F G A A H I L M K M W T p.100
. . . . . . g.5599
TTTGGCAACTTCTGGTGCGAGTTTTGGACTTCCATTGATGTGCTGTGCGTCACGGCCAGC c.360
F G N F W C E F W T S I D V L C V T A S p.120
. . . . . . g.5659
ATTGAGACCCTGTGCGTGATCGCAGTGGATCGCTACTTTGCCATTACTTCACCTTTCAAG c.420
I E T L C V I A V D R Y F A I T S P F K p.140
. . . . . . g.5719
TACCAGAGCCTGCTGACCAAGAATAAGGCCCGGGTGATCATTCTGATGGTGTGGATTGTG c.480
Y Q S L L T K N K A R V I I L M V W I V p.160
. . . . . . g.5779
TCAGGCCTTACCTCCTTCTTGCCCATTCAGATGCACTGGTACCGGGCCACCCACCAGGAA c.540
S G L T S F L P I Q M H W Y R A T H Q E p.180
. . . . . . g.5839
GCCATCAACTGCTATGCCAATGAGACCTGCTGTGACTTCTTCACGAACCAAGCCTATGCC c.600
A I N C Y A N E T C C D F F T N Q A Y A p.200
. . . . . . g.5899
ATTGCCTCTTCCATCGTGTCCTTCTACGTTCCCCTGGTGATCATGGTCTTCGTCTACTCC c.660
I A S S I V S F Y V P L V I M V F V Y S p.220
. . . . . . g.5959
AGGGTCTTTCAGGAGGCCAAAAGGCAGCTCCAGAAGATTGACAAATCTGAGGGCCGCTTC c.720
R V F Q E A K R Q L Q K I D K S E G R F p.240
. . . . . . g.6019
CATGTCCAGAACCTTAGCCAGGTGGAGCAGGATGGGCGGACGGGGCATGGACTCCGCAGA c.780
H V Q N L S Q V E Q D G R T G H G L R R p.260
. . . . . . g.6079
TCTTCCAAGTTCTGCTTGAAGGAGCACAAAGCCCTCAAGACGTTAGGCATCATCATGGGC c.840
S S K F C L K E H K A L K T L G I I M G p.280
. . . . . . g.6139
ACTTTCACCCTCTGCTGGCTGCCCTTCTTCATCGTTAACATTGTGCATGTGATCCAGGAT c.900
T F T L C W L P F F I V N I V H V I Q D p.300
. . . . . . g.6199
AACCTCATCCGTAAGGAAGTTTACATCCTCCTAAATTGGATAGGCTATGTCAATTCTGGT c.960
N L I R K E V Y I L L N W I G Y V N S G p.320
. . . . . . g.6259
TTCAATCCCCTTATCTACTGCCGGAGCCCAGATTTCAGGATTGCCTTCCAGGAGCTTCTG c.1020
F N P L I Y C R S P D F R I A F Q E L L p.340
. . . . . . g.6319
TGCCTGCGCAGGTCTTCTTTGAAGGCCTATGGGAATGGCTACTCCAGCAACGGCAACACA c.1080
C L R R S S L K A Y G N G Y S S N G N T p.360
. . . . . . g.6379
GGGGAGCAGAGTGGATATCACGTGGAACAGGAGAAAGAAAATAAACTGCTGTGTGAAGAC c.1140
G E Q S G Y H V E Q E K E N K L L C E D p.380
. . . . . . g.6439
CTCCCAGGCACGGAAGACTTTGTGGGCCATCAAGGTACTGTGCCTAGCGATAACATTGAT c.1200
L P G T E D F V G H Q G T V P S D N I D p.400
. . . . g.6481
TCACAAGGGAGGAATTGTAGTACAAATGACTCACTGCTGTAA c.1242
S Q G R N C S T N D S L L X p.413
. . . . . . g.6541
agcagtttttctacttttaaagacccccccccccaacagaacactaaacagactatttaa c.*60
. . . . . . g.6601
cttgagggtaataaacttagaataaaattgtaaaattgtatagagatatgcagaaggaag c.*120
. . . . . . g.6661
ggcatccttctgccttttttatttttttaagctgtaaaaagagagaaaacttatttgagt c.*180
. . . . . . g.6721
gattatttgttatttgtacagttcagttcctctttgcatggaatttgtaagtttatgtct c.*240
. . . . . . g.6781
aaagagctttagtcctagaggacctgagtctgctatattttcatgacttttccatgtatc c.*300
. . . . . . g.6841
tacctcactattcaagtattaggggtaatatattgctgctggtaatttgtatctgaagga c.*360
. . . . . . g.6901
gattttccttcctacacccttggacttgaggattttgagtatctcggacctttcagctgt c.*420
. . . . . . g.6961
gaacatggactcttcccccactcctcttatttgctcacacggggtattttaggcagggat c.*480
. . . . . . g.7021
ttgaggagcagcttcagttgttttcccgagcaaagtctaaagtttacagtaaataaattg c.*540
. . g.7042
tttgaccatgccttcattgca c.*561
(downstream sequence)
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