(used for variant description)
(last modified August 28, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000274.3 in the OAT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008861.1, covering OAT transcript NM_000274.3.
(upstream sequence)
. g.4987
ttgggggcggggc c.-121
. . . . . . g.5047
agaatcagcctttaagttgcagtgactctccggcgtcactgttgcgcttcatagacgccg c.-61
. . . . | 02 . . g.11779
cgtgtacccggttgtcctcaggcgctgtcag | atctgtggtttttctacttgaaggacaca c.-1
. . . . . . g.11839
ATGTTTTCCAAACTAGCACATTTGCAGAGGTTTGCTGTACTTAGTCGCGGAGTTCATTCT c.60
M F S K L A H L Q R F A V L S R G V H S p.20
. . . . . . g.11899
TCAGTGGCTTCTGCTACATCTGTTGCAACTAAAAAAACAGTCCAAGGCCCTCCAACCTCT c.120
S V A S A T S V A T K K T V Q G P P T S p.40
. . . . . . g.11959
GATGACATTTTTGAAAGGGAATATAAGTATGGTGCACACAACTACCATCCTTTACCTGTA c.180
D D I F E R E Y K Y G A H N Y H P L P V p.60
. | 03 . . . . g.15026
GCCCTGGAGAGAGGAAAAG | GTATTTACTTATGGGATGTAGAAGGCAGAAAATATTTTGAC c.240
A L E R G K G | I Y L W D V E G R K Y F D p.80
. . . . . . g.15086
TTCCTGAGTTCTTACAGTGCTGTCAACCAAGGGCATTGTCACCCCAAGATTGTGAATGCT c.300
F L S S Y S A V N Q G H C H P K I V N A p.100
. . . . . . g.15146
CTGAAGAGTCAAGTGGACAAATTGACCTTAACATCTAGAGCTTTCTATAATAACGTACTT c.360
L K S Q V D K L T L T S R A F Y N N V L p.120
. . . . . . g.15206
GGTGAATATGAGGAGTATATTACTAAACTTTTCAACTACCACAAAGTTCTTCCTATGAAT c.420
G E Y E E Y I T K L F N Y H K V L P M N p.140
| 04 . . . . . . g.15369
ACAG | GAGTGGAGGCTGGAGAGACTGCCTGTAAACTAGCTCGTAAGTGGGGCTATACCGTG c.480
T G | V E A G E T A C K L A R K W G Y T V p.160
. . . . | 05 . . g.18407
AAGGGCATTCAGAAATACAAAGCAAAGATTGTTTTTGCAG | CTGGGAACTTCTGGGGTAGG c.540
K G I Q K Y K A K I V F A A | G N F W G R p.180
. . . . . . g.18467
ACGTTGTCTGCTATCTCCAGTTCCACAGACCCAACCAGTTACGATGGTTTTGGACCATTT c.600
T L S A I S S S T D P T S Y D G F G P F p.200
. . . . | 06 . g.20042
ATGCCGGGATTCGACATCATTCCCTATAATGATCTGCCCGCACTGGAG | CGTGCTCTTCAG c.660
M P G F D I I P Y N D L P A L E | R A L Q p.220
. . . . . . g.20102
GATCCAAATGTGGCTGCGTTCATGGTAGAACCAATTCAGGGTGAAGCAGGCGTTGTTGTT c.720
D P N V A A F M V E P I Q G E A G V V V p.240
. . . . . | 07 . g.20904
CCGGATCCAGGTTACCTAATGGGAGTGCGAGAGCTCTGCACCAGGCACCAG | GTTCTCTTT c.780
P D P G Y L M G V R E L C T R H Q | V L F p.260
. . . . . . g.20964
ATTGCTGATGAAATACAGACAGGATTGGCCAGAACTGGTAGATGGCTGGCTGTTGATTAT c.840
I A D E I Q T G L A R T G R W L A V D Y p.280
. . . . . . g.21024
GAAAATGTCAGACCTGATATAGTCCTCCTTGGAAAGGCCCTTTCTGGGGGCTTATACCCT c.900
E N V R P D I V L L G K A L S G G L Y P p.300
| 08 . . . . . . g.22171
| GTGTCTGCAGTGCTGTGTGATGATGACATCATGCTGACCATTAAGCCAGGGGAGCATGGG c.960
| V S A V L C D D D I M L T I K P G E H G p.320
. . . . . | 09 . g.22972
TCCACATACGGTGGCAATCCACTAGGCTGCCGAGTGGCCATCGCAGCCCTTGAG | GTTTTA c.1020
S T Y G G N P L G C R V A I A A L E | V L p.340
. . . . . . g.23032
GAAGAAGAAAACCTTGCTGAAAATGCAGACAAATTGGGCATTATCTTGAGAAATGAACTC c.1080
E E E N L A E N A D K L G I I L R N E L p.360
. . . . . . g.23092
ATGAAGCTACCTTCTGATGTTGTAACTGCCGTAAGAGGAAAAGGATTATTAAACGCTATT c.1140
M K L P S D V V T A V R G K G L L N A I p.380
. | 10 . . . . g.25889
GTCATTAAAGAAACCAAAG | ATTGGGATGCTTGGAAGGTGTGTCTACGACTTCGAGATAAT c.1200
V I K E T K D | W D A W K V C L R L R D N p.400
. . . . . . g.25949
GGACTTCTGGCCAAGCCAACCCATGGCGACATTATCAGGTTTGCGCCTCCGCTGGTGATC c.1260
G L L A K P T H G D I I R F A P P L V I p.420
. . . . . . g.26009
AAGGAGGATGAGCTTCGAGAGTCCATTGAAATTATTAACAAGACCATCTTGTCTTTCTGA c.1320
K E D E L R E S I E I I N K T I L S F X p.439
. . . . . . g.26069
gggtagccagctgttttcagtggtccctgggagccagctggagacaggtggtcctgtaaa c.*60
. . . . . . g.26129
agctttattcctaatgtgggcacattccactcccatgagtcttcaaaaactttttttttg c.*120
. . . . . . g.26189
aatatatttttttcagttgatacataatagaacaacgtttatgaacctgccgtttgcttt c.*180
. . . . . . g.26249
gtaacgtaactaaataatgtaatggcatctatattcagttgaagtgttttgatgtgcatg c.*240
. . . . . . g.26309
tgtacttcctaaggtgaaatgcatctatatacagacagcctctaaatcaagtccttcagt c.*300
. . . . . . g.26369
ataattgatatatgtttttataatttcctcactggtataagtgtttcatatttgaaaaag c.*360
. . . . . . g.26429
ttatctctgggtattgcataaaaggcttcatcttataaagtgaaatcattgttattgaat c.*420
. . . . . . g.26489
tttaggaaggattaatggttaagtgtatataaaatactaatattaagtaaacttcatatt c.*480
. . . . . . g.26549
ggccaacaccagggttgtattctatggatgtcattattttgaattaagaattagtgttta c.*540
. . . . . . g.26609
acattcctaaattgttttgagtgcttgattataatttgtaaaaaatgtttattttcaata c.*600
. . . g.26648
cttctttaaatttaaaataaagcttatatttcaaatgtc c.*639
(downstream sequence)
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