(used for variant description)
(last modified October 20, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_031850.2 in the AGTR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008468.1, covering AGTR1 transcript NM_031850.2.
(upstream sequence)
. . g.5026
actataaattcggagctgcctcctcg c.-421
. . . . . . g.5086
ccaatgattccagcgcctgacagccaggaccccaggcagcagcgagtgacaggacgtctg c.-361
. . . . . . g.5146
gaccggcgcgccgctagcagctctgccgggccgcggcggtgatcgatggggagcggctgg c.-301
. . . . . . g.5206
agcggacccagcgagtgagggcgcacagccgggacgccgaggcggcgggcgggagacccg c.-241
. . . . . . | 02 g.15082
caccagcgcagccggccctcggcgggacgtgacgcagcgcccggggcgcgg | gtttgatat c.-181
. . . . . . g.15142
ttgacaaattgatctaaaatggctgggtttttatctgaataactcactgatgccatccca c.-121
. . | 03 . . . . g.37354
gaaagtcggcaccag | atgaagaaaatgaatcacaagtcaactgacagtccaaaggctcca c.-61
. . | 04 . . . . g.48165
cagctcagaggag | gtgtatttgatatagtgtttgcaacaaattcgacccaggtgatcaaa c.-1
. . . . . . g.48225
ATGATTCTCAACTCTTCTACTGAAGATGGTATTAAAAGAATCCAAGATGATTGTCCCAAA c.60
M I L N S S T E D G I K R I Q D D C P K p.20
. . . . . . g.48285
GCTGGAAGGCATAATTACATATTTGTCATGATTCCTACTTTATACAGTATCATCTTTGTG c.120
A G R H N Y I F V M I P T L Y S I I F V p.40
. . . . . . g.48345
GTGGGAATATTTGGAAACAGCTTGGTGGTGATAGTCATTTACTTTTATATGAAGCTGAAG c.180
V G I F G N S L V V I V I Y F Y M K L K p.60
. . . . . . g.48405
ACTGTGGCCAGTGTTTTTCTTTTGAATTTAGCACTGGCTGACTTATGCTTTTTACTGACT c.240
T V A S V F L L N L A L A D L C F L L T p.80
. . . . . . g.48465
TTGCCACTATGGGCTGTCTACACAGCTATGGAATACCGCTGGCCCTTTGGCAATTACCTA c.300
L P L W A V Y T A M E Y R W P F G N Y L p.100
. . . . . . g.48525
TGTAAGATTGCTTCAGCCAGCGTCAGTTTCAACCTGTACGCTAGTGTGTTTCTACTCACG c.360
C K I A S A S V S F N L Y A S V F L L T p.120
. . . . . . g.48585
TGTCTCAGCATTGATCGATACCTGGCTATTGTTCACCCAATGAAGTCCCGCCTTCGACGC c.420
C L S I D R Y L A I V H P M K S R L R R p.140
. . . . . . g.48645
ACAATGCTTGTAGCCAAAGTCACCTGCATCATCATTTGGCTGCTGGCAGGCTTGGCCAGT c.480
T M L V A K V T C I I I W L L A G L A S p.160
. . . . . . g.48705
TTGCCAGCTATAATCCATCGAAATGTATTTTTCATTGAGAACACCAATATTACAGTTTGT c.540
L P A I I H R N V F F I E N T N I T V C p.180
. . . . . . g.48765
GCTTTCCATTATGAGTCCCAAAATTCAACCCTCCCGATAGGGCTGGGCCTGACCAAAAAT c.600
A F H Y E S Q N S T L P I G L G L T K N p.200
. . . . . . g.48825
ATACTGGGTTTCCTGTTTCCTTTTCTGATCATTCTTACAAGTTATACTCTTATTTGGAAG c.660
I L G F L F P F L I I L T S Y T L I W K p.220
. . . . . . g.48885
GCCCTAAAGAAGGCTTATGAAATTCAGAAGAACAAACCAAGAAATGATGATATTTTTAAG c.720
A L K K A Y E I Q K N K P R N D D I F K p.240
. . . . . . g.48945
ATAATTATGGCAATTGTGCTTTTCTTTTTCTTTTCCTGGATTCCCCACCAAATATTCACT c.780
I I M A I V L F F F F S W I P H Q I F T p.260
. . . . . . g.49005
TTTCTGGATGTATTGATTCAACTAGGCATCATACGTGACTGTAGAATTGCAGATATTGTG c.840
F L D V L I Q L G I I R D C R I A D I V p.280
. . . . . . g.49065
GACACGGCCATGCCTATCACCATTTGTATAGCTTATTTTAACAATTGCCTGAATCCTCTT c.900
D T A M P I T I C I A Y F N N C L N P L p.300
. . . . . . g.49125
TTTTATGGCTTTCTGGGGAAAAAATTTAAAAGATATTTTCTCCAGCTTCTAAAATATATT c.960
F Y G F L G K K F K R Y F L Q L L K Y I p.320
. . . . . . g.49185
CCCCCAAAAGCCAAATCCCACTCAAACCTTTCAACAAAAATGAGCACGCTTTCCTACCGC c.1020
P P K A K S H S N L S T K M S T L S Y R p.340
. . . . . . g.49245
CCCTCAGATAATGTAAGCTCATCCACCAAGAAGCCTGCACCATGTTTTGAGGTTGAGTGA c.1080
P S D N V S S S T K K P A P C F E V E X p.359
. . . . . . g.49305
catgttcgaaacctgtccataaagtaattttgtgaaagaaggagcaagagaacattcctc c.*60
. . . . . . g.49365
tgcagcacttcactaccaaatgagcattagctacttttcagaattgaaggagaaaatgca c.*120
. . . . . . g.49425
ttatgtggactgaaccgacttttctaaagctctgaacaaaagcttttctttccttttgca c.*180
. . . . . . g.49485
acaagacaaagcaaagccacattttgcattagacagatgacggctgctcgaagaacaatg c.*240
. . . . . . g.49545
tcagaaactcgatgaatgtgttgatttgagaaattttactgacagaaatgcaatctccct c.*300
. . . . . . g.49605
agcctgcttttgtcctgttattttttatttccacataaaggtatttagaatatattaaat c.*360
. . . . . . g.49665
cgttagaggagcaacaggagatgagagttccagattgttctgtccagtttccaaagggca c.*420
. . . . . . g.49725
gtaaagttttcgtgccggttttcagctattagcaactgtgctacacttgcacctggtact c.*480
. . . . . . g.49785
gcacattttgtacaaagatatgctaagcagtagtcgtcaagttgcagatctttttgtgaa c.*540
. . . . . . g.49845
attcaacctgtgtcttataggtttccactgccaaaacaatgcccgtaagatggcttattt c.*600
. . . . . . g.49905
gtataatggtgttactaaagtcacatataaaagttaaactacttgtaaaggtgctgcact c.*660
. . . . . . g.49965
ggtcccaagtagtagtgtcttcctagtatattagtttgatttaatatctgagaagtgtat c.*720
. . . . . . g.50025
atagtttgtggtaaaaagattatatatcataaagtatgccttcctgtttaaaaaaagtat c.*780
. . . . . . g.50085
atattctacacatatatgtatatgtatatctatatctctaaactgctgttaattgattaa c.*840
. . . . g.50133
aatctggcaaagttatatttactttaaaataaaataattttattgcaa c.*888
(downstream sequence)
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