(used for variant description)
(last modified December 8, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_016569.3 in the TBX3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008315.1, covering TBX3 transcript NM_016569.3.
(upstream sequence)
g.5004
gaat c.-961
. . . . . . g.5064
tctagaggcggcggagggtggcgaggagctctcgctttctctcgctccctccctctccga c.-901
. . . . . . g.5124
ctccgtctctctctctctctctctctctcccctccctctctttccctctgttccattttt c.-841
. . . . . . g.5184
tccccctctaaatcctccctgccctgcgcgcctggacacagatttaggaagcgaattcgc c.-781
. . . . . . g.5244
tcacgttttaggacaaggaagagagagaggcacgggagaagagcccagcaagatttggat c.-721
. . . . . . g.5304
tgaaaccgagacaccctccggaggctcggagcagaggaaggaggaggagggcggcgaacg c.-661
. . . . . . g.5364
gaagccagtttgcaattcaagttttgatagcgctggtagaagggggtttaaatcagattt c.-601
. . . . . . g.5424
ttttttttttaaaggagagagactttttccgctctctcgctccctgttaaagccgggtct c.-541
. . . . . . g.5484
agcacagctgcagacgccaccagcgagaaagagggagaggaagacagatagggggcgggg c.-481
. . . . . . g.5544
gaagaagaaaaagaaaggtaaaaagtcttctaggagaacctttcacatttgcaacaaaag c.-421
. . . . . . g.5604
acctaggggctggagagagattcctgggacgcagggctggagtgtctatttcgagctcag c.-361
. . . . . . g.5664
cggcagggctcgggcgcgagtcgagaccctgctcgctcctctcgcttctgaaaccgacgt c.-301
. . . . . . g.5724
tcaggagcggctttttaaaaacgcaaggcacaaggacggtcacccgcgcgactatgtttg c.-241
. . . . . . g.5784
ctgatttttcgccttgccctctttaaaagcggcctcccattctccaaaagacacttcccc c.-181
. . . . . . g.5844
tcctccctttgaagtgcattagttgtgatttctgcctccttttcttttttctttcttttt c.-121
. . . . . . g.5904
tgttttgctttttccccccttttgaattatgtgctgctgttaaacaacaacaaaaaaaca c.-61
. . . . . . g.5964
acaaaacacagcagctgcggacttgtccccggctggagcccagcgccccgcctggagtgg c.-1
. . . . . . g.6024
ATGAGCCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTC c.60
M S L S M R D P V I P G T S M A Y H P F p.20
. . . . . . g.6084
CTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGTCACCAGCCGCCGTTC c.120
L P H R A P D F A M S A V L G H Q P P F p.40
. . . . . . g.6144
TTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTG c.180
F P A L T L P P N G A A A L S L P G A L p.60
. . . . . . g.6204
GCCAAGCCGATCATGGATCAATTGGTGGGGGCGGCCGAGACCGGCATCCCGTTCTCCTCC c.240
A K P I M D Q L V G A A E T G I P F S S p.80
. . . . . . g.6264
CTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAG c.300
L G P Q A H L R P L K T M E P E E E V E p.100
. . . . . . g.6324
GACGACCCCAAGGTGCACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGC c.360
D D P K V H L E A K E L W D Q F H K R G p.120
. . | 02 . . . g.8049
ACCGAGATGGTCATTACCAAGTCGGGAAG | GCGAATGTTTCCTCCATTTAAAGTGAGATGT c.420
T E M V I T K S G R | R M F P P F K V R C p.140
. . . . . . g.8109
TCTGGGCTGGATAAAAAAGCCAAATACATTTTATTGATGGACATTATAGCTGCTGATGAC c.480
S G L D K K A K Y I L L M D I I A A D D p.160
. . . . . . g.8169
TGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAGGCCGACCCCGAAATG c.540
C R Y K F H N S R W M V A G K A D P E M p.180
. . . . . . g.8229
CCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAA c.600
P K R M Y I H P D S P A T G E Q W M S K p.200
. . . . . | 03. g.9195
GTCGTCACTTTCCACAAACTGAAACTCACCAACAACATTTCAGACAAACATGGATTT | ACT c.660
V V T F H K L K L T N N I S D K H G F | T p.220
. . . . . | 04. g.9516
TTGGCCTTCCCAAGTGATCACGCTACGTGGCAGGGGAATTATAGTTTTGGTACTCAG | ACT c.720
L A F P S D H A T W Q G N Y S F G T Q | T p.240
. . . . . . g.9576
ATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATC c.780
I L N S M H K Y Q P R F H I V R A N D I p.260
. . . . . . g.9636
TTGAAACTCCCTTATAGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCT c.840
L K L P Y S T F R T Y L F P E T E F I A p.280
. . | 05 . . . . g.11544
GTGACTGCATACCAGAATGATAAG | ATAACCCAGTTAAAAATAGACAACAACCCTTTTGCA c.900
V T A Y Q N D K | I T Q L K I D N N P F A p.300
. . . . | 06 . . g.12713
AAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAG | AAAACAGCTCACCCTGCAG c.960
K G F R D T G N G R R E K R | K Q L T L Q p.320
. . . . . . g.12773
TCCATGAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACCTCTGATGAGTCCTCC c.1020
S M R V F D E R H K K E N G T S D E S S p.340
. . . . . . g.12833
AGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCACTGTA c.1080
S E Q A A F N C F A Q A S S P A A S T V p.360
. | 07 . . . . g.14370
GGGACATCGAACCTCAAAG | ATTTATGTCCCAGCGAGGGTGAGAGCGACGCCGAGGCCGAG c.1140
G T S N L K D | L C P S E G E S D A E A E p.380
. . . . . . g.14430
AGCAAAGAGGAGCATGGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCG c.1200
S K E E H G P E A C D A A K I S T T T S p.400
. . . . . . g.14490
GAGGAGCCCTGCCGTGACAAGGGCAGCCCCGCGGTCAAGGCTCACCTTTTCGCTGCTGAG c.1260
E E P C R D K G S P A V K A H L F A A E p.420
. . . . . . g.14550
CGGCCCCGGGACAGCGGGCGGCTGGACAAAGCGTCGCCCGACTCACGCCATAGCCCCGCC c.1320
R P R D S G R L D K A S P D S R H S P A p.440
. . . . . . g.14610
ACCATCTCGTCCAGCACTCGCGGCCTGGGCGCGGAGGAGCGCAGGAGCCCGGTTCGCGAG c.1380
T I S S S T R G L G A E E R R S P V R E p.460
. . . . . . g.14670
GGCACAGCGCCGGCCAAGGTGGAAGAGGCGCGCGCGCTCCCGGGCAAGGAGGCCTTCGCG c.1440
G T A P A K V E E A R A L P G K E A F A p.480
. . . . . . g.14730
CCGCTCACGGTGCAGACGGACGCGGCCGCCGCGCACCTGGCCCAGGGCCCCCTGCCTGGC c.1500
P L T V Q T D A A A A H L A Q G P L P G p.500
. . . . . . g.14790
CTCGGCTTCGCCCCGGGCCTGGCGGGCCAACAGTTCTTCAACGGGCACCCGCTCTTCCTG c.1560
L G F A P G L A G Q Q F F N G H P L F L p.520
. . . . . . g.14850
CACCCCAGCCAGTTTGCCATGGGGGGCGCCTTCTCCAGCATGGCGGCCGCTGGCATGGGT c.1620
H P S Q F A M G G A F S S M A A A G M G p.540
. . . . . . g.14910
CCCCTCCTGGCCACGGTTTCTGGGGCCTCCACCGGTGTCTCGGGCCTGGATTCCACGGCC c.1680
P L L A T V S G A S T G V S G L D S T A p.560
. . . . . . g.14970
ATGGCCTCTGCCGCTGCGGCGCAGGGACTGTCCGGGGCGTCCGCGGCCACCCTGCCCTTC c.1740
M A S A A A A Q G L S G A S A A T L P F p.580
. . . | 08 . . . g.16892
CACCTCCAGCAGCACGTCCTGGCCTCTCAG | GGCCTGGCCATGTCCCCTTTCGGAAGCCTG c.1800
H L Q Q H V L A S Q | G L A M S P F G S L p.600
. . . . . . g.16952
TTCCCTTACCCCTACACGTACATGGCCGCAGCGGCGGCCGCCTCCTCTGCGGCAGCCTCC c.1860
F P Y P Y T Y M A A A A A A S S A A A S p.620
. . . . . . g.17012
AGCTCGGTGCACCGCCACCCCTTCCTCAATCTGAACACCATGCGCCCGCGGCTGCGCTAC c.1920
S S V H R H P F L N L N T M R P R L R Y p.640
. . . . . . g.17072
AGCCCCTACTCCATCCCGGTGCCGGTCCCGGACGGCAGCAGTCTGCTCACCACCGCCCTG c.1980
S P Y S I P V P V P D G S S L L T T A L p.660
. . . . . . g.17132
CCCTCCATGGCGGCGGCCGCGGGGCCCCTGGACGGCAAAGTCGCCGCCCTGGCCGCCAGC c.2040
P S M A A A A G P L D G K V A A L A A S p.680
. . . . . . g.17192
CCGGCCTCGGTGGCAGTGGACTCGGGCTCTGAACTCAACAGCCGCTCCTCCACGCTCTCC c.2100
P A S V A V D S G S E L N S R S S T L S p.700
. . . . . . g.17252
TCCAGCTCCATGTCCTTGTCGCCCAAACTCTGCGCGGAGAAAGAGGCGGCCACCAGCGAA c.2160
S S S M S L S P K L C A E K E A A T S E p.720
. . . . . . g.17312
CTGCAGAGCATCCAGCGGTTGGTTAGCGGCTTGGAAGCCAAGCCGGACAGGTCCCGCAGC c.2220
L Q S I Q R L V S G L E A K P D R S R S p.740
. g.17324
GCGTCCCCGTAG c.2232
A S P X p.743
. . . . . . g.17384
acccgtcccagacacgtcttttcattccagtccagttcaggctgccgtgcactttgtcgg c.*60
. . . . . . g.17444
atataaaataaaccacgggcccgccatggcgttagcccttccttttgcagttgcgtctgg c.*120
. . . . . . g.17504
gaaggggccccggactccctcgagagaatgtgctagagacagcccctgtcttcttggcgt c.*180
. . . . . . g.17564
ggtttatatgtccgggatctggatcagattctgggggctcagaaacgtcggttgcattga c.*240
. . . . . . g.17624
gctactgggggtaggagttccaacatttatgtccagagcaacttccagcaaggctggtct c.*300
. . . . . . g.17684
gggtctctgcccaccaggcggggaggtgttcaaagacatctccctcagtgcggatttata c.*360
. . . . . . g.17744
tatatatttttccttcactgtgtcaagtggaaacaaaaacaaaatctttcaaaaaaaaaa c.*420
. . . . . . g.17804
tcgggacaagtgaacacattaacatgattctgtttgtgcagattaaaaactttataggga c.*480
. . . . . . g.17864
cttgcattatcggttctcaataaattactgagcagctttgtttggggagggaagtcccta c.*540
. . . . . . g.17924
ccatccttgtttagtctatattaagaaaatctgtgtctttttaatattcttgtgatgttt c.*600
. . . . . . g.17984
tcagagccgctgtaggtctcttcttgcatgtccacagtaatgtatttgtggtttttattt c.*660
. . . . . . g.18044
tgaacgcttgcttttagagagaaaacaatatagccccctacccttttcccaatcctttgc c.*720
. . . . . . g.18104
cctcaaatcagtgacccaagggagggggggatttaaagggaaggagtgggcaaaacacat c.*780
. . . . . . g.18164
aaaatgaatttattatatctaagctctgtagcaggattcatgtcgttctttgacagttct c.*840
. . . . . . g.18224
ttctctttcctgtatatgcaataacaaggttttaaaaaaataataaagaagtgagactat c.*900
. . . . . . g.18284
tagacaaagtatttatgtaattatttgataactcttgtaaataggtggaatatgaatgct c.*960
. . . . . . g.18344
tggaaaattaaactttaatttattgacattgtacatagctctgtgtaaatagaattgcaa c.*1020
. . . . . . g.18404
ctgtcaggttttgtgttcttgttttcctttagttgggtttatttccaggtcacagaattg c.*1080
. . . . . . g.18464
ctgttaacactagaaaacacacttcctgcaccaacaccaataccctttcaaaagagttgt c.*1140
. . . . . . g.18524
ctgcaacatttttgttttcttttttaatgtccaaaagtgggggaaagtgctatttcctat c.*1200
. . . . . . g.18584
tttcaccaaaattggggaaggagtgccactttccagctccacttcaaattccttaaaata c.*1260
. . . . . . g.18644
taactgagattgctgtggggagggaggagggcagaggctgcggtttgactttttaatttt c.*1320
. . . . . . g.18704
tcttttgttatttgtatttgctagtctctgatttcctcaaaacgaagtggaatttactac c.*1380
. . . . . . g.18764
tgttgtcagtatcggtgttttgaattggtgcctgcctatagagatatattcacagttcaa c.*1440
. . . . . . g.18824
aagtcaggtgctgagagatggtttaaagacaaattcatgaaggtatattttgtgttatag c.*1500
. . . . . . g.18884
ttgttgatgagttctttggttttctgtatttttccccctctctttaaaacatcactgaaa c.*1560
. . g.18911
tttcaataaatttttattgaaatgtct c.*1587
(downstream sequence)
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