(used for variant description)
(last modified May 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018488.2 in the TBX4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008080.1, covering TBX4 transcript NM_018488.2.
(upstream sequence)
. . . . g.5045
tgtggacctgggcgagtgactcgttgtgtgctgtgcccgcaggag c.-1
. . . . . . g.5105
ATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGGGCCCAGCG c.60
M L Q D K G L S E S E E A F R A P G P A p.20
. . . . . . g.5165
CTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCAGCGCCGGGCCTCAGC c.120
L G E A S A A N A P E P A L A A P G L S p.40
. . . . . . g.5225
GGAGCCGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGTCGTCGCCGCCGCCGCCGCG c.180
G A A L G S P P G P G A D V V A A A A A p.60
| 02 . . . . . . g.6145
GAGCAG | ACCATCGAGAACATCAAGGTGGGGCTGCATGAGAAGGAGCTCTGGAAGAAGTTC c.240
E Q | T I E N I K V G L H E K E L W K K F p.80
. . . . | 03 . . g.14392
CACGAGGCGGGCACCGAGATGATCATCACTAAGGCTGGCAG | GAGGATGTTCCCCAGCTAC c.300
H E A G T E M I I T K A G R | R M F P S Y p.100
. . . . . . g.14452
AAGGTAAAAGTCACAGGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTC c.360
K V K V T G M N P K T K Y I L L I D I V p.120
. . . . | 04 . . g.16083
CCTGCCGATGACCATCGCTACAAGTTCTGTGACAACAAATG | GATGGTGGCAGGGAAGGCT c.420
P A D D H R Y K F C D N K W | M V A G K A p.140
. . . . . . g.16143
GAGCCAGCCATGCCAGGAAGGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCAC c.480
E P A M P G R L Y V H P D S P A T G A H p.160
. . . . . . g.16203
TGGATGCGGCAGCTGGTCTCCTTCCAGAAGCTGAAGCTGACAAACAACCACCTGGACCCC c.540
W M R Q L V S F Q K L K L T N N H L D P p.180
| 05 . . . . . g.27232
TTTGGCCAT | ATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAG c.600
F G H | I I L N S M H K Y Q P R L H I V K p.200
. . . . . . g.27292
GCTGATGAGAACAATGCTTTCGGCTCCAAAAACACTGCTTTCTGCACCCACGTGTTCCCA c.660
A D E N N A F G S K N T A F C T H V F P p.220
. . . . | 06 . . g.28453
GAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAG | ATCACCCAGCTGAAAATT c.720
E T S F I S V T S Y Q N H K | I T Q L K I p.240
. . . . . . g.28513
GAGAACAACCCTTTTGCCAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCC c.780
E N N P F A K G F R G S D D S D L R V A p.260
. | 07 . . . . . g.28693
CGACTGCAGAG | CAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATC c.840
R L Q S | K E Y P V I S K S I M R Q R L I p.280
. . . . . . g.28753
TCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTC c.900
S P Q L S A T P D V G P L L G T H Q A L p.300
. . . . . . g.28813
CAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAGCCGCAGGACCTGCCC c.960
Q H Y Q H E N G A H S Q L A E P Q D L P p.320
. . . . . . g.28873
CTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGA c.1020
L S T F P T Q R D S S L F Y H C L K R R p.340
| 08 . . . . . . g.31513
G | ACGGTACCCGCCACCTGGACTTACCTTGCAAGCGATCCTATCTGGAAGCCCCCTCTTCG c.1080
D | G T R H L D L P C K R S Y L E A P S S p.360
. . . . . . g.31573
GTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCC c.1140
V G E D H Y F R S P P P Y D Q Q M L S P p.380
. . . . . . g.31633
TCCTACTGCAGTGAGGTGACCCCCAGAGAAGCATGTATGTACTCAGGTTCAGGGCCCGAG c.1200
S Y C S E V T P R E A C M Y S G S G P E p.400
. . . . . . g.31693
ATTGCCGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGAGCTGTAACATGTGG c.1260
I A G V S G V D D L P P P P L S C N M W p.420
. . . . . . g.31753
ACTTCAGTGTCGCCGTACACCAGCTATAGCGTGCAGACGATGGAGACTGTGCCGTACCAG c.1320
T S V S P Y T S Y S V Q T M E T V P Y Q p.440
. . . . . . g.31813
CCCTTCCCCACGCACTTCACCGCCACCACCATGATGCCGCGGCTGCCCACCCTCTCCGCT c.1380
P F P T H F T A T T M M P R L P T L S A p.460
. . . . . . g.31873
CAGAGCTCCCAGCCACCAGGAAATGCCCACTTTAGTGTCTACAATCAGCTCTCCCAGTCT c.1440
Q S S Q P P G N A H F S V Y N Q L S Q S p.480
. . . . . . g.31933
CAGGTCCGAGAGCGGGGGCCCAGCGCCTCATTCCCAAGAGAGCGCGGCCTCCCCCAAGGG c.1500
Q V R E R G P S A S F P R E R G L P Q G p.500
. . . . . . g.31993
TGTGAGAGGAAGCCACCCTCGCCACATCTAAATGCTGCCAATGAGTTTCTCTACTCTCAA c.1560
C E R K P P S P H L N A A N E F L Y S Q p.520
. . . . . . g.32053
ACCTTCTCCTTGTCCCGAGAATCTTCCTTACAGTACCATTCAGGAATGGGGACTGTGGAG c.1620
T F S L S R E S S L Q Y H S G M G T V E p.540
. g.32071
AACTGGACTGACGGATGA c.1638
N W T D G X p.545
. . . . . . g.32131
ctctcacgtctcctccatagccccgggaccgtgttgctccagtattaacctctgtgggtg c.*60
. . . . . . g.32191
gcctgcactctaccaagaaacacaggaaggtattccagtgtgtgtgtgtgtgtgtgtgtg c.*120
. . . . . . g.32251
tgtgtgtgtgtgtgtgtatacacgagcatgtatgtatttggagagcatccatcttctgac c.*180
. . . . . . g.32311
atacaactgaggtcatgacaaggaaaaaaaacaccacatttatctaagaagtgattttgg c.*240
. . . . . . g.32371
ctgcaggacctgggtctattgttatctgacatctcttgacatgcccgtgggtgggatggg c.*300
. . . . . . g.32431
agtggagggttcatatgagttattgagagggttttataatggttgatttactcaggggcc c.*360
. . . . . . g.32491
aggtggggagttctctcccatggggaaagattctcactgctggggtgggaagattctcgc c.*420
. . . . . . g.32551
tgctggggtgtgaggactctgtgcacaccttagagttcctggccttctctttgcaagggg c.*480
. . . . . . g.32611
agctgagaatctggttttggtagcaggaggcccactcctttgacttctggagagtctgtg c.*540
. . . . . . g.32671
agactgcctgagaggtgggctcagctaagccacaatgtgtactttgatagtacagctggc c.*600
. . . . . . g.32731
tgctcagtgagtggcctagacattgatgactggagctctgaggtctgagggatgacgttc c.*660
. . . . . . g.32791
ggaaagggtcatgggctaaatgtcacctgaggggtatttttaaagggtttttttttccct c.*720
. . . . . . g.32851
tcaagaggagggaaaatgcaaccagtagcatctctgtcatcattcagattttgtaataaa c.*780
g.32858
gtacaga c.*787
(downstream sequence)
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