(used for variant description)
(last modified October 20, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000029.3 in the AGT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008836.1, covering AGT transcript NM_000029.3.(upstream sequence) . . g.5028 atcccatgagcgggcagcagggtcagaa c.-481 . . . . . . g.5088 gtggcccccgtgttgcctaagcaagactctcccctgccctctgccctctgcacctccggc c.-421 . . . . . . g.5148 ctgcatgtccctgtggcctcttgggggtacatctcccggggctgggtcagaaggcctggg c.-361 . . . . . . g.5208 tggttggcctcaggctgtcacacacctagggagatgctcccgtttctgggaaccttggcc c.-301 . . . . . . g.5268 ccgactcctgcaaacttcggtaaatgtgtaactcgaccctgcaccggctcactctgttca c.-241 . . . . . . g.5328 gcagtgaaactctgcatcgatcactaagacttcctggaagaggtcccagcgtgagtgtcg c.-181 . . . . . . g.5388 cttctggcatctgtccttctggccagcctgtggtctggccaagtgatgtaaccctcctct c.-121 . . . . . . g.5448 ccagcctgtgcacaggcagcctgggaacagctccatccccacccctcagctataaatagg c.-61 . . . . . . | 02 g.8740 gcatcgtgacccggccgggggaagaagctgccgttgttctgggtactacagcagaag | ggt c.-1 . . . . . . g.8800 ATGCGGAAGCGAGCACCCCAGTCTGAGATGGCTCCTGCCGGTGTGAGCCTGAGGGCCACC c.60 M R K R A P Q S E M A P A G V S L R A T p.20 . . . . . . g.8860 ATCCTCTGCCTCCTGGCCTGGGCTGGCCTGGCTGCAGGTGACCGGGTGTACATACACCCC c.120 I L C L L A W A G L A A G D R V Y I H P p.40 . . . . . . g.8920 TTCCACCTCGTCATCCACAATGAGAGTACCTGTGAGCAGCTGGCAAAGGCCAATGCCGGG c.180 F H L V I H N E S T C E Q L A K A N A G p.60 . . . . . . g.8980 AAGCCCAAAGACCCCACCTTCATACCTGCTCCAATTCAGGCCAAGACATCCCCTGTGGAT c.240 K P K D P T F I P A P I Q A K T S P V D p.80 . . . . . . g.9040 GAAAAGGCCCTACAGGACCAGCTGGTGCTAGTCGCTGCAAAACTTGACACCGAAGACAAG c.300 E K A L Q D Q L V L V A A K L D T E D K p.100 . . . . . . g.9100 TTGAGGGCCGCAATGGTCGGGATGCTGGCCAACTTCTTGGGCTTCCGTATATATGGCATG c.360 L R A A M V G M L A N F L G F R I Y G M p.120 . . . . . . g.9160 CACAGTGAGCTATGGGGCGTGGTCCATGGGGCCACCGTCCTCTCCCCAACGGCTGTCTTT c.420 H S E L W G V V H G A T V L S P T A V F p.140 . . . . . . g.9220 GGCACCCTGGCCTCTCTCTATCTGGGAGCCTTGGACCACACAGCTGACAGGCTACAGGCA c.480 G T L A S L Y L G A L D H T A D R L Q A p.160 . . . . . . g.9280 ATCCTGGGTGTTCCTTGGAAGGACAAGAACTGCACCTCCCGGCTGGATGCGCACAAGGTC c.540 I L G V P W K D K N C T S R L D A H K V p.180 . . . . . . g.9340 CTGTCTGCCCTGCAGGCTGTACAGGGCCTGCTAGTGGCCCAGGGCAGGGCTGATAGCCAG c.600 L S A L Q A V Q G L L V A Q G R A D S Q p.200 . . . . . . g.9400 GCCCAGCTGCTGCTGTCCACGGTGGTGGGCGTGTTCACAGCCCCAGGCCTGCACCTGAAG c.660 A Q L L L S T V V G V F T A P G L H L K p.220 . . . . . . g.9460 CAGCCGTTTGTGCAGGGCCTGGCTCTCTATACCCCTGTGGTCCTCCCACGCTCTCTGGAC c.720 Q P F V Q G L A L Y T P V V L P R S L D p.240 . . . . . . g.9520 TTCACAGAACTGGATGTTGCTGCTGAGAAGATTGACAGGTTCATGCAGGCTGTGACAGGA c.780 F T E L D V A A E K I D R F M Q A V T G p.260 . . . . . . g.9580 TGGAAGACTGGCTGCTCCCTGATGGGAGCCAGTGTGGACAGCACCCTGGCTTTCAACACC c.840 W K T G C S L M G A S V D S T L A F N T p.280 . | 03 . . . . . g.13434 TACGTCCACTTCCAAG | GGAAGATGAAGGGCTTCTCCCTGCTGGCCGAGCCCCAGGAGTTC c.900 Y V H F Q G | K M K G F S L L A E P Q E F p.300 . . . . . . g.13494 TGGGTGGACAACAGCACCTCAGTGTCTGTTCCCATGCTCTCTGGCATGGGCACCTTCCAG c.960 W V D N S T S V S V P M L S G M G T F Q p.320 . . . . . . g.13554 CACTGGAGTGACATCCAGGACAACTTCTCGGTGACTCAAGTGCCCTTCACTGAGAGCGCC c.1020 H W S D I Q D N F S V T Q V P F T E S A p.340 . . . . . . g.13614 TGCCTGCTGCTGATCCAGCCTCACTATGCCTCTGACCTGGACAAGGTGGAGGGTCTCACT c.1080 C L L L I Q P H Y A S D L D K V E G L T p.360 . . . . | 04 . . g.15269 TTCCAGCAAAACTCCCTCAACTGGATGAAGAAACTATCTCCCCG | GACCATCCACCTGACC c.1140 F Q Q N S L N W M K K L S P R | T I H L T p.380 . . . . . . g.15329 ATGCCCCAACTGGTGCTGCAAGGATCTTATGACCTGCAGGACCTGCTCGCCCAGGCTGAG c.1200 M P Q L V L Q G S Y D L Q D L L A Q A E p.400 . . . . . . g.15389 CTGCCCGCCATTCTGCACACCGAGCTGAACCTGCAAAAATTGAGCAATGACCGCATCAGG c.1260 L P A I L H T E L N L Q K L S N D R I R p.420 | 05 . . . . . g.16312 GTGGGGGAG | GTGCTGAACAGCATTTTTTTTGAGCTTGAAGCGGATGAGAGAGAGCCCACA c.1320 V G E | V L N S I F F E L E A D E R E P T p.440 . . . . . . g.16372 GAGTCTACCCAACAGCTTAACAAGCCTGAGGTCTTGGAGGTGACCCTGAACCGCCCATTC c.1380 E S T Q Q L N K P E V L E V T L N R P F p.460 . . . . . . g.16432 CTGTTTGCTGTGTATGATCAAAGCGCCACTGCCCTGCACTTCCTGGGCCGCGTGGCCAAC c.1440 L F A V Y D Q S A T A L H F L G R V A N p.480 . g.16450 CCGCTGAGCACAGCATGA c.1458 P L S T A X p.485 . . . . . . g.16510 ggccagggccccagaacacagtgcctggcaaggcctctgcccctggcctttgaggcaaag c.*60 . . . . . . g.16570 gccagcagcagataacaaccccggacaaatcagcgatgtgtcacccccagtctcccacct c.*120 . . . . . . g.16630 tttcttctaatgagtcgactttgagctggaaagcagccgtttctccttggtctaagtgtg c.*180 . . . . . . g.16690 ctgcatggagtgagcagtagaagcctgcagcggcacaaatgcacctcccagtttgctggg c.*240 . . . . . . g.16750 tttattttagagaatgggggtggggaggcaagaaccagtgtttagcgcgggactactgtt c.*300 . . . . . . g.16810 ccaaaaagaattccaaccgaccagcttgtttgtgaaacaaaaaagtgttcccttttcaag c.*360 . . . . . . g.16870 ttgagaacaaaaattgggttttaaaattaaagtatacatttttgcattgccttcggtttg c.*420 . . . . . . g.16930 tatttagtgtcttgaatgtaagaacatgacctccgtgtagtgtctgtaataccttagttt c.*480 . . . . . . g.16990 tttccacagatgcttgtgatttttgaacaatacgtgaaagatgcaagcacctgaatttct c.*540 . . . . . . g.17050 gtttgaatgcggaaccatagctggttatttctcccttgtgttagtaataaacgtcttgcc c.*600 . g.17068 acaataagcctccaaaaa c.*618 (downstream sequence)Legend:
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