(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ADRBK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering ADRBK2 transcript NM_005160.3.
(upstream sequence)
. . g.1027
cggcgcgcgcgcggggcgggggcgcgc c.-121
. . . . . . g.1087
ggaggggggggctgccccggggcggcccccccaggtcggggcgcggcgggcggcggcggc c.-61
. . . . . . g.1147
gggcgcgcgtcccgtccaggtccggagtaaccgccgccgccgccgccaaagctcgccaac c.-1
. . . . . . g.1207
ATGGCGGACCTGGAGGCTGTGCTGGCCGATGTCAGTTACCTGATGGCCATGGAGAAGAGC c.60
M A D L E A V L A D V S Y L M A M E K S p.20
. . . . . | 02 . g.40490
AAGGCGACCCCGGCCGCCCGCGCCAGCAAGAGGATCGTCCTGCCGGAGCCCAG | TATCCGG c.120
K A T P A A R A S K R I V L P E P S | I R p.40
. . . . . . g.40550
AGTGTGATGCAGAAGTACCTTGCAGAGAGAAATGAAATAACCTTTGACAAGATTTTCAAT c.180
S V M Q K Y L A E R N E I T F D K I F N p.60
. | 03 . . . . . g.80748
CAGAAAATTG | GTTTCTTGCTATTTAAAGATTTTTGTTTGAATGAAATTAATGAAGCTGTA c.240
Q K I G | F L L F K D F C L N E I N E A V p.80
. . | 04 . . . . g.97718
CCTCAGGTGAAGTTTTATGAAGAG | ATAAAGGAATATGAAAAACTTGATAATGAGGAAGAC c.300
P Q V K F Y E E | I K E Y E K L D N E E D p.100
. . . . . . g.97778
CGCCTTTGCAGAAGTCGACAAATTTATGATGCCTACATCATGAAGGAACTTCTTTCCTGT c.360
R L C R S R Q I Y D A Y I M K E L L S C p.120
| 05 . . . . . . g.99790
TCACAT | CCTTTCTCAAAGCAAGCTGTAGAACACGTACAAAGTCATTTATCCAAGAAACAA c.420
S H | P F S K Q A V E H V Q S H L S K K Q p.140
. . | 06 . . . . g.103884
GTGACATCAACTCTTTTTCAG | CCATACATAGAAGAAATTTGTGAAAGCCTTCGAGGTGAC c.480
V T S T L F Q | P Y I E E I C E S L R G D p.160
. . | 07 . . . . g.108439
ATTTTTCAAAAATTTATGGAAAG | TGACAAGTTCACTAGATTTTGTCAGTGGAAAAACGTT c.540
I F Q K F M E S | D K F T R F C Q W K N V p.180
. | 08 . . . . . g.110588
GAATTAAATATCCAT | TTGACCATGAATGAGTTCAGTGTGCATAGGATTATTGGACGAGGA c.600
E L N I H | L T M N E F S V H R I I G R G p.200
. . . . | 09. . g.114935
GGATTCGGGGAAGTTTATGGTTGCAGGAAAGCAGACACTGGAAAAAT | GTATGCAATGAAA c.660
G F G E V Y G C R K A D T G K M | Y A M K p.220
. . . . . . g.114995
TGCTTAGATAAGAAGAGGATCAAAATGAAACAAGGAGAAACATTAGCCTTAAATGAAAGA c.720
C L D K K R I K M K Q G E T L A L N E R p.240
. . | 10. . . . g.121309
ATCATGTTGTCTCTTGTCAGCACAGGA | GACTGTCCTTTCATTGTATGTATGACCTATGCC c.780
I M L S L V S T G | D C P F I V C M T Y A p.260
. . . . | 11 . . g.123657
TTCCATACCCCAGATAAACTCTGCTTCATCCTGGATCTGATGAACG | GGGGCGATTTGCAC c.840
F H T P D K L C F I L D L M N G | G D L H p.280
. . . . . . g.123717
TACCACCTTTCACAACACGGTGTGTTCTCTGAGAAGGAGATGCGGTTTTATGCCACTGAA c.900
Y H L S Q H G V F S E K E M R F Y A T E p.300
. . . . . | 12. g.126298
ATCATTCTGGGTCTGGAACACATGCACAATCGGTTTGTTGTCTACAGAGATTTGAAG | CCA c.960
I I L G L E H M H N R F V V Y R D L K | P p.320
. . . . . . g.126358
GCAAATATTCTCTTGGATGAACATGGACACGCAAGAATATCAGATCTTGGTCTTGCCTGC c.1020
A N I L L D E H G H A R I S D L G L A C p.340
. . . | 13 . . . g.131241
GATTTTTCCAAAAAGAAGCCTCATGCGAGTGT | TGGCACCCATGGGTACATGGCTCCCGAG c.1080
D F S K K K P H A S V | G T H G Y M A P E p.360
. . . . . . g.131301
GTGCTGCAGAAGGGGACGGCCTATGACAGCAGTGCCGACTGGTTCTCCCTGGGCTGCATG c.1140
V L Q K G T A Y D S S A D W F S L G C M p.380
. . | 14 . . . . g.139656
CTTTTCAAACTTCTGAGAGG | TCACAGCCCTTTCAGACAACATAAAACCAAAGACAAGCAT c.1200
L F K L L R G | H S P F R Q H K T K D K H p.400
. . | 15. . . . g.140248
GAAATTGACCGAATGACACTCACCGTG | AATGTGGAACTTCCAGACACCTTCTCTCCTGAA c.1260
E I D R M T L T V | N V E L P D T F S P E p.420
. . . . . . g.140308
CTGAAGTCCCTTTTGGAGGGCTTGCTTCAGCGAGACGTTAGCAAGCGGCTGGGCTGTCAC c.1320
L K S L L E G L L Q R D V S K R L G C H p.440
| 16 . . . . . g.146056
GGAGGCGG | CTCACAGGAAGTAAAAGAGCACAGCTTTTTCAAAGGTGTTGACTGGCAGCAT c.1380
G G G | S Q E V K E H S F F K G V D W Q H p.460
. | 17 . . . . . g.147219
GTCTACTTACAAAAG | TACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCT c.1440
V Y L Q K | Y P P P L I P P R G E V N A A p.480
. . . . . | 18 . g.150523
GATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAG | CTACTTGAT c.1500
D A F D I G S F D E E D T K G I K | L L D p.500
. . . . . . g.150583
TGCGACCAAGAACTCTACAAGAACTTCCCTTTGGTCATCTCTGAACGCTGGCAGCAAGAA c.1560
C D Q E L Y K N F P L V I S E R W Q Q E p.520
. . . . . . g.150643
GTAACGGAAACAGTTTATGAAGCAGTAAATGCAGACACAGATAAAATCGAGGCCAGGAAG c.1620
V T E T V Y E A V N A D T D K I E A R K p.540
. . . | 19 . . . g.154377
AGAGCTAAAAATAAGCAACTTGGCCACGAAGAAG | ATTACGCTCTGGGGAAGGACTGTATT c.1680
R A K N K Q L G H E E D | Y A L G K D C I p.560
. . . . . . g.154437
ATGCACGGGTACATGCTGAAACTGGGAAACCCATTTCTGACTCAGTGGCAGCGTCGCTAT c.1740
M H G Y M L K L G N P F L T Q W Q R R Y p.580
. . . . . | 20 . g.157399
TTTTACCTCTTTCCAAATAGACTTGAATGGAGAGGAGAGGGAGAGTCCCGG | CAAAATTTA c.1800
F Y L F P N R L E W R G E G E S R | Q N L p.600
. . . . . . g.157459
CTGACAATGGAACAGATTCTCTCTGTGGAAGAAACTCAAATTAAAGACAAAAAATGCATT c.1860
L T M E Q I L S V E E T Q I K D K K C I p.620
. . . . | 21 . . g.158410
TTGTTCAGAATAAAAGGAGGGAAACAATTTGTCTTGCAATGTGAG | AGTGATCCAGAGTTT c.1920
L F R I K G G K Q F V L Q C E | S D P E F p.640
. . . . . . g.158470
GTGCAGTGGAAGAAAGAGTTGAACGAAACCTTCAAGGAGGCCCAGCGGCTATTGCGTCGT c.1980
V Q W K K E L N E T F K E A Q R L L R R p.660
. . . . . . g.158530
GCCCCGAAGTTCCTCAACAAACCTCGGTCAGGTACTGTGGAGCTCCCAAAGCCATCCCTC c.2040
A P K F L N K P R S G T V E L P K P S L p.680
. . g.158557
TGTCACAGAAACAGCAACGGCCTCTAG c.2067
C H R N S N G L X p.688
. . . . . . g.158617
cacccagaaacagggagggtcctcgaggaggacacaccagggtctcagccttttggggtg c.*60
. . . . . . g.158677
aacgaggatgaggcatctgatctattcgctaccgggactcctccaggctcccgagaggag c.*120
. . . . . . g.158737
tcgggacccttcggcttggggtcagctcagctccctgccttgtcacatttgtctgcatta c.*180
. . . . . . g.158797
gaaactactgaagaaataaaagttctttttctttgctacacactttggtacctatgaacc c.*240
. . . . . . g.158857
tagaacttgaagtgactcctacttatcacgtaaatttttatgtctgatatcaaacacatc c.*300
. . . . . . g.158917
ttagactccccagaatggaatttaaagatgttcagtgttgggtaacagattgccctaagc c.*360
. . . . . . g.158977
attgccacatattctgtctagtcactgctgattttctatgtctttgctccatactgctgg c.*420
. . . . . . g.159037
gggatgggagagccacagtgtgtttcttttgtgcacttcgcaactgacttcttgtcctgg c.*480
. . . . . . g.159097
ggttaaaagttgaagatattttctgatgatattaaaagttgaagatatttctgcacttgg c.*540
. . . . . . g.159157
gccctcctctgggagccgcacccacatgactgccctgcctctgaccagtctgttccgggg c.*600
. . . . . . g.159217
ccccctcagccaggtgggaatgacggacacgtactatccaagtgtatgggattaactaat c.*660
. . . . . . g.159277
cattgaaggcattcatccgtccatcattggaaagatttacagtgattctgaaggacaggc c.*720
. . . . . . g.159337
cgtggagttttaggtttcaggggcaagagcagttttcaaaagtctttgagtccagtgtgc c.*780
. . . . . . g.159397
acgagtcgacaagcagtacctggcatgcaggagcactcatgggtgagtccgtctcaggtc c.*840
. . . . . . g.159457
tcgacaattagcagttgtgtgacagtcattctggttccttctgcctgaccctgggagaca c.*900
. . . . . . g.159517
tatcagtaatggatgtacaaaagcaggtctgttttatgtcttagtataatttcagatgaa c.*960
. . . . . . g.159577
ttgtattgaaaaaatgctgaggaatgaatgtgtcaaaatgggttaactgtgtatattgac c.*1020
. . . . . . g.159637
tttcatgtcgtcatgcatctgtcatgaatgaatgatactttgcactgggctgtacgacag c.*1080
. . . . . . g.159697
tgaggaccttagggcatgaagcctttttcctggtcccagcagcatctgccctgtgaagtt c.*1140
. . . . . . g.159757
tgttttctcccactgcctccaggccccactgatacccccaaatagatgctgggttatgag c.*1200
. . . . . . g.159817
aaccagcgaaatcccccatgtcatcagtcttaaaaaaaaaattttacaaatccacgtatt c.*1260
. . . . . . g.159877
tgtcccattcttggagtagttttagtgtatgtctttacattaactactaacagtataaat c.*1320
. . . . . . g.159937
aacttgacatcgtaattgtctgcatcctgtccttgatatttttagcagttccaaatcttt c.*1380
. . . . . . g.159997
gtttttgtatttgtttgctgtgttcatgggcaaagtaagtactttttaatgcagttattt c.*1440
. . . . . . g.160057
tgagagtttggaagataattaccaaaagggtccattatttcataagagttactttgcaaa c.*1500
. . . . . . g.160117
aaaaaaaatgtgggtttttttttttgtctatctcaactactagttggggtttaaattaac c.*1560
. . . . . . g.160177
atacattttctactatctgttatttccagtgtgggaggagggatgtactacttacatgca c.*1620
. . . . . . g.160237
ttctccttatttaaaaaggaagaatagtattcaaattctgttgaaacacacacacacaca c.*1680
. . . . . . g.160297
cacacacacacacacacacactccagaagcagaaaagccattgttcttaaagagtgaatg c.*1740
. . . . . . g.160357
tcttcccagccctggttaattatagctgtgactgatgccgttcccgtctgcatctcaagc c.*1800
. . . . . . g.160417
tcataggttctcagcatgtgcagttgaggatgcgctgggcctcatgcctgttctagatct c.*1860
. . . . . . g.160477
ccaggataaagggcctgctgttgactccaccagggtctgggcttagcgtctaatatctcg c.*1920
. . . . . . g.160537
tacctagggcgtgagctgcacaaacgtgttcagaaagattattcaactttcccatacttg c.*1980
. . . . . . g.160597
ttctaaaattgagctgatccgcatctctttcaaaaactagaatttctgctctaagaatag c.*2040
. . . . . . g.160657
aacataaggctccactcccttttagaaaagatatatgaattggaaaatgctctgaaagtc c.*2100
. . . . . . g.160717
cttttgcttcaaacaaaagtgtaaacttttacacttccccaactcacatttgatttgtaa c.*2160
. . . . . . g.160777
tgatatggttgagaagtacatctagatgtcatttattaaaagtgctttgtaagactagat c.*2220
. . . . . . g.160837
tgagctgtttctgagggcggtcaccagttgtgttggggtctggtttgagtgccttctgcc c.*2280
. . . . . . g.160897
aaaatgttgtgatggaggtgtttctgcgaccagacacaggataccgctgtgtctgcaccc c.*2340
. . . . . . g.160957
ggttgcctgcatggccagaggaaaagtcagttggattaaacatcatggtatacttggctg c.*2400
. . . . . . g.161017
ttgtttttttttaattttttaattttttgggatagggcctcgctctgtcacccaggctgg c.*2460
. . . . . . g.161077
agaacagtgggatgatcatggctcactgcagccttgaattcctaggttcaagcaatcctc c.*2520
. . . . . . g.161137
ccacgtcagcctcctgagtagctaggactacaggtgcatgccacctttcctggctaattt c.*2580
. . . . . . g.161197
attttttgggtagagatggggtcttgaactcttaggctcaagtgatcctccttccttggc c.*2640
. . . . . . g.161257
ctcccaaaatgctggaattagagatgtaagccaccatgcccagccatagtacttggatgt c.*2700
. . . . . . g.161317
tttagaaggttttccaagtattacataattcctagatgttcacccttattacactccaac c.*2760
. . . . . . g.161377
tattaaaaaggtcaaaattcagcctattttttttcattattttagattcctgtggttggg c.*2820
. . . . . . g.161437
atattttaacattgatgagaaaaataattgaggttgatatttttacaaaatcatgcggta c.*2880
. . . . . . g.161497
ataagtcttgatttcatgattcaaaagaatcaataaagcctaaaaataatagattacttt c.*2940
. . . . . . g.161557
aagctgctatgtaagatatatatggaataaattaaaaacctttgtgaattcaggtttatt c.*3000
. . . . . . g.161617
atttttaacctaaaacattctctttggttcattcatcccctcatgtcatgggggctcatt c.*3060
. . . . . . g.161677
ggttttccttctttgtcatatttaagtatgatttttcaacaaaacttctagaagtcagct c.*3120
. . . . . . g.161737
tattatgtcaccattcatgcaaagtgctcatgcctctgattggtccattcactgacgtga c.*3180
. . . . . . g.161797
caatttcaggtcctatgtttaaaaagaaggggctggccgggcacgatggctcacgcctat c.*3240
. . . . . . g.161857
aatcccagcactttgggaggccgagaggggcggttcacgaggtcaggagattgagaccat c.*3300
. . . . . . g.161917
cctggttagcagagtgaaaccccgtctctactaaaaatacaaataaaaattagccgggcg c.*3360
. . . . . . g.161977
tggtggcgggcgcctgtagtcccagctacttgggaggctgaggcaggagaatggcatgaa c.*3420
. . . . . . g.162037
cccgggaggcagagcttgcagtgagccgagattgcgccactgcactccagcctgggcgac c.*3480
. . . . . . g.162097
agagcgagactctgtctcaaaaaaaaaaaggaggggggctaaatatccagtgagatgcac c.*3540
. . . . . . g.162157
tgaggaaaggaagcattttgctgaagacagcagcagcaacaaacaatggtctgtttgttg c.*3600
. . . . . . g.162217
caaacaagatgtagcttgatttctggtctgacatatgccatatacagatattagaaacga c.*3660
. . . . . . g.162277
ctgtttgaaggccacactggtcatctacaaagtaatgtttaccaattgacgacagggatt c.*3720
. . . . . . g.162337
taactagattaaaaagatcaaagtgtggtttttctctgctttttaaaatttcactcggaa c.*3780
. . . . . . g.162397
tttgtagctgggccaattcaacacattttacttttcagtggaattgatttttctaatgtt c.*3840
. . . . . . g.162457
tcagaattttaacatatcaagaagaaaacaacgttctcaaagtctggcctctttagcatg c.*3900
. . . . . . g.162517
atgtaaacctatagaaatgctttgaaatgtgctggtgtaagataagagttatcttgtatg c.*3960
. . . . . . g.162577
atttaatcatatgcagtgttgtctcagttacgttcagggaaatgtttctgtgtcattcag c.*4020
. . . . . . g.162637
agatgcttgatgaattaacacctcccaccctgagtgaggggttgacttgttgggagatga c.*4080
. . . . . . g.162697
tttgggcttcactgggatctgtgacaggtgggggctgggctgggtgtcacaaagagaata c.*4140
. . . . . . g.162757
gtggtagaaatcgggcgaaggaagaaagaagttactggtaaaaatcattacaccataaag c.*4200
. . . . . . g.162817
caccaaggaaataactgagttaaaataggtgaagtttcttttttcccccctgtaacagga c.*4260
. . . . . . g.162877
gagttttccttatgataattattctgagacttggtcactttgtttttgaatgtggagctg c.*4320
. . . . . . g.162937
ctgaactcattcagaagccatttgctgcctatcaggactttctgaagaagttcttttgcc c.*4380
. . . . . . g.162997
tctgcctaccctctggcaccctcccatggaggcacaggggacccagagctaaagcattac c.*4440
. . . . . . g.163057
caggccatctccaaaacaccccgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgt c.*4500
. . . . . . g.163117
gtgtgtgcactttgcagcccccgaggtggagaggcagtgtctggatcactgtgaatgcat c.*4560
. . . . . . g.163177
tgccccattggtcagttggggacactgttacaaatccactgaagtcctggtaaaactgtc c.*4620
. . . . . . g.163237
aagagtaacaggcctcttctgttctaccctgctcacttccacggtgagttaccagcctgg c.*4680
. . . . . . g.163297
gcaacacagcaagaccccatctctacaaaaaaaatttttttaagtaattaaccgtttaaa c.*4740
. . . . . . g.163357
ttttttcctaaagatttaacatgatttttccctcctatgtaaagtttactggagagactt c.*4800
. . . . . . g.163417
gaattacttaaattcatgttaatatgatttttttttaatccaggtcacattttaacaaag c.*4860
. . . . . . g.163477
tttattatgaaacaaatgaaatttgaactctaaaatggtactccttggcttcctcaagtc c.*4920
. . . . . . g.163537
acaatgaactttatattttctttgtccttaaggactaagatagttgttttatttcagccg c.*4980
. . . . . . g.163597
aatcacagagataaccactcctgcaggcccccacagctggcccaaaggggctgtctttct c.*5040
. . . . . . g.163657
gacctggctgtgttagcactgattgagaaacgcaggctcccaaattttaaattgccttta c.*5100
. . . . . . g.163717
ttaaaaacacaaactacagaaaatgggttaagagtatacgcatttcatcaaacacatata c.*5160
. . . . . . g.163777
ggggaaaaaatccttcaatttagagttaaataactcagctttgtatagtagagttagcgc c.*5220
. . . . . . g.163837
tccagtatctaacaatctcagaatcatctctgaaaactggtaactatgcttccattttta c.*5280
. . . . . . g.163897
attttgtcctaaatatcagatgtctttgatgtaagggtagggaatggagaaatattttca c.*5340
. . . . . . g.163957
attgtgtatttgtattacaaagaacttgaaatttactttcttagttgattatattaaatg c.*5400
. . . . . . g.164017
atgtatatattatatgtggtttataagctcaacactggccatttttttagttttattgtt c.*5460
. . . . . . g.164077
aaatggtatttttctatgtttaattataatagatctggctttttctggatagcataaaga c.*5520
. . . . . . g.164137
tcactgaactatatatatataagaaacaagagttctattttagcacaaaggcattttata c.*5580
. . . . . . g.164197
ttatttattgaatccataagtttgttttcgtcaaaaacattccatattatttctgctcct c.*5640
. . . . . . g.164257
ttttatttgtatagtttgttatttaaagaaatggcagtccttcctgttcttaatacaata c.*5700
. . . . . . g.164317
aaattgaaataatgcacctagtaatgtggccgacatctcttctcaccaccatggactgtt c.*5760
. . . . . . g.164377
ttcaacaacagttgatcttctggtctgtgctgagaggcgcatgcatgtctttcgtcacgt c.*5820
. . . . . . g.164437
cgggcagcacacctgctgtgaaatactgctttcatctacctcttcagaaggcttcttgct c.*5880
. . . . . . g.164497
tgttgacaagtaccgcaaaggctttattctggactggctatctcataaaaggatttctgt c.*5940
. . . . . . g.164557
aagactttgcagtgtcattccctcagaacctaggtttgtttctaaagccacggtattgtc c.*6000
. . . . . . g.164617
caggagcccctgtgtgtggggcaggtagctatccctcccatgtcattagtaatcctttag c.*6060
. . . . . . g.164677
gatttaaggtacaactggacagcatcattccttccccttattgtgccaaatccccaccat c.*6120
. . . . . . g.164737
cagccttgccattgccttaagatttgattattgcacccaattacctaaccactaaacaga c.*6180
. . . . . . g.164797
aaggccaccttcactctttgaaaaaggcaagctgtgcttagaaacactgcttttaagagt c.*6240
. . . . . . g.164857
agcacatttgagtgtgactttttccccccttcactatttcaaaatggttttgaaatgggg c.*6300
. . . . . . g.164917
tcttaaaggtaagcgccctcatacatgactgaaactttgtgagaggtcttatatttgaat c.*6360
. . . . . . g.164977
ggacccttaatgatttatgtgaaatagaatgaagtcctgtctctgtgagagaacgtgcct c.*6420
. . . . . . g.165037
cctcactcatttgtctctgtctgttttcatagccatcaatatagtaacatatttactata c.*6480
. . . . . . g.165097
ttcttgaatacccttgaagaaagaaatccgttttctattgtgcattgctatacgaagtga c.*6540
. . . . . . g.165157
agccagtaaactagatactgtaaatctagatattgtacctagacaaaatatcattggttc c.*6600
. . . . . . g.165217
tatctctttttgtatctgttgtgccagggaaggtttataatcccttctcagtatacactc c.*6660
. . . . . . g.165277
actagtgcacgtctgaaatagtatcccacgggagatgctgctccacgtctgaggtcacct c.*6720
. . . . . . g.165337
gccctgtgtggggcacaccaccgtcagcaccaccgtttttacagttactttggagctgct c.*6780
. . . . . . g.165397
agactggttttctgtgttggtaaattgcctatataaatctgaataaaaaggatctgtaca c.*6840
g.165399
aa c.*6842
(downstream sequence)
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