(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_000481.3 in the AMT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering AMT transcript NM_000481.3.
(upstream sequence)
. . . . g.5048
gagctgccctgaagagtcagccgaaagagctggaggcttcttccctgt c.-181
. . . . . . g.5108
ggttgcgggttcctgcattctctgctctaaatcccagcctgcccttggggctgcccacgc c.-121
. . . . . . g.5168
ccccttcagatcctttgctccggagagagacctgtccgagcagaggcctggactacatct c.-61
. . . . . . g.5228
cccggcgtgcctggcagtgtggtggcctctgtgcgccgtctgcactcgttgcaggcgacg c.-1
. . . . . . g.5288
ATGCAGAGGGCTGTAAGTGTGGTGGCCCGTCTGGGCTTTCGCCTGCAGGCATTCCCCCCG c.60
M Q R A V S V V A R L G F R L Q A F P P p.20
. . . | 02 . . . g.5437
GCCTTGTGTCGTCCACTTAGTTGCGCACAG | GAGGTGCTCCGCAGGACACCGCTCTATGAC c.120
A L C R P L S C A Q | E V L R R T P L Y D p.40
. . . . . . g.5497
TTCCACCTGGCCCACGGCGGGAAAATGGTGGCGTTTGCGGGTTGGAGTCTGCCAGTGCAG c.180
F H L A H G G K M V A F A G W S L P V Q p.60
. . . . . . g.5557
TACCGGGACAGTCACACTGACTCGCACCTGCACACACGCCAGCACTGCTCGCTCTTTGAC c.240
Y R D S H T D S H L H T R Q H C S L F D p.80
. | 03 . . . . g.6148
GTGTCTCATATGCTGCAG | ACCAAGATACTTGGTAGTGACCGGGTGAAGCTGATGGAGAGT c.300
V S H M L Q | T K I L G S D R V K L M E S p.100
. . . | 04 . . g.7357
CTAGTGGTTGGAGACATTGCAGAGCTAAGACCAAACCAG | GGGACACTGTCGCTGTTTACC c.360
L V V G D I A E L R P N Q | G T L S L F T p.120
. . . . . . g.7417
AACGAGGCTGGAGGCATCTTAGATGACTTGATTGTAACCAATACTTCTGAGGGCCACCTG c.420
N E A G G I L D D L I V T N T S E G H L p.140
. . . . . | 05 . g.7899
TATGTGGTGTCCAACGCTGGCTGCTGGGAGAAAGATTTGGCCCTCATGCAG | GACAAGGTC c.480
Y V V S N A G C W E K D L A L M Q | D K V p.160
. . . . . . g.7959
AGGGAGCTTCAGAACCAGGGCAGAGATGTGGGCCTGGAGGTGTTGGATAATGCCCTGCTA c.540
R E L Q N Q G R D V G L E V L D N A L L p.180
. | 06 . . . . . g.8323
GCTCTGCAAG | GCCCCACTGCAGCCCAGGTACTACAGGCCGGCGTGGCAGATGACCTGAGG c.600
A L Q G | P T A A Q V L Q A G V A D D L R p.200
. . . . . . g.8383
AAACTGCCCTTCATGACCAGTGCTGTGATGGAGGTGTTTGGCGTGTCTGGCTGCCGCGTG c.660
K L P F M T S A V M E V F G V S G C R V p.220
. . . | 07 . . . g.8551
ACCCGCTGTGGCTACACAGGAGAGGATGGTGTGGAG | ATCTCGGTGCCGGTAGCGGGGGCA c.720
T R C G Y T G E D G V E | I S V P V A G A p.240
. . . . . . g.8611
GTTCACCTGGCAACAGCTATTCTGAAAAACCCAGAGGTGAAGCTGGCAGGGCTGGCAGCC c.780
V H L A T A I L K N P E V K L A G L A A p.260
. . . . . . g.8671
AGGGACAGCCTGCGCCTGGAGGCAGGCCTCTGCCTGTATGGGAATGACATTGATGAACAC c.840
R D S L R L E A G L C L Y G N D I D E H p.280
. . . | 08. . . g.9728
ACTACACCTGTGGAGGGCAGCCTCAGTTGGACACTGG | GGAAGCGCCGCCGAGCTGCTATG c.900
T T P V E G S L S W T L G | K R R R A A M p.300
. . . . . . g.9788
GACTTCCCTGGAGCCAAGGTCATTGTTCCCCAGCTGAAGGGCAGGGTGCAGCGGAGGCGT c.960
D F P G A K V I V P Q L K G R V Q R R R p.320
. . . . . . g.9848
GTGGGGTTGATGTGTGAGGGGGCCCCCATGCGGGCACACAGTCCCATCCTGAACATGGAG c.1020
V G L M C E G A P M R A H S P I L N M E p.340
. | 09 . . . . . g.10007
GGTACCAAGATTG | GTACTGTGACTAGTGGCTGCCCCTCCCCCTCTCTGAAGAAGAATGTG c.1080
G T K I G | T V T S G C P S P S L K K N V p.360
. . . . . . g.10067
GCGATGGGTTATGTGCCCTGCGAGTACAGTCGTCCAGGGACAATGCTGCTGGTAGAGGTG c.1140
A M G Y V P C E Y S R P G T M L L V E V p.380
. . . . . . g.10127
CGGCGGAAGCAGCAGATGGCTGTAGTCAGCAAGATGCCCTTTGTGCCCACAAACTACTAT c.1200
R R K Q Q M A V V S K M P F V P T N Y Y p.400
. g.10139
ACCCTCAAGTGA c.1212
T L K X p.403
. . . . . . g.10199
agctggctcagggtggggctgtcccttccaggagttttgcccctacaaggggttagtcaa c.*60
. . . . . . g.10259
gaagctgaggcagaactcactgggggtgggcagttaaggtggaggctgattctaattgtc c.*120
. . . . . . g.10319
tggttgaggggccacaccacctattccccccacctaactcatgccattccagcttccttc c.*180
. . . . . . g.10379
aggaccctgcttctgagtgacggaccagctcacacaatgtcttgtttcagtccatgatcc c.*240
. . . . . . g.10439
cactgacctactcttgcctgctggagggtaatgagaagctttggttctgccatctctccc c.*300
. . . . . . g.10499
actctgccaggtgctggctgtggagcaaaggctcacctttgtggagaggataaaacctgc c.*360
. . . . . . g.10559
ccaacctacctcaccatggtttttcacattgcaaagggtaataacatgggcagtgcggac c.*420
. . . . . . g.10619
ttaggctaccccctccagtttgctttccgtaaatgcaaattgtccttactgcaagtcagg c.*480
. . . . . . g.10679
aatgattgctgactcacagtagggctgctatgcctgtgtgtaaacttggggatggctgag c.*540
. . . . . . g.10739
ggaacatagactcactcttccacattcccaagttggtctagtgtgctgcccagtagcaaa c.*600
. . . . . . g.10799
ccatggcagactcaccacctattctgagttccagggctgctgtagggcagggtgggcttc c.*660
. . . . . . g.10859
ctcccagacttgccttaccctgggctgatctttgcccctggtatgcattaatggactcca c.*720
. . . . g.10901
ctgaatcctgaaaaaaaaattaaacttccttcttacttgcca c.*762
(downstream sequence)
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