(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the TBX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering TBX1 transcript NM_080647.1.
(upstream sequence)
g.1009
ccggcaggg c.-121
. . . . | 02 . . g.3881
ggagcgaggaggaagggaaccgcggccgggccag | cggaggcggcggagcgcaccgcccac c.-61
. . . . . . g.3941
cagggctcagggtcctccgaccgggtgaagcttcgctggctgccaggatccccggcaggg c.-1
. . . | 03 . . . g.5228
ATGCACTTCAGCACCGTCACCAGGGACATGGAAG | CCTTCACGGCCAGCAGCCTGAGCAGC c.60
M H F S T V T R D M E A | F T A S S L S S p.20
. . . . . . g.5288
CTGGGGGCCGCGGGGGGCTTCCCGGGCGCCGCGTCGCCCGGCGCCGACCCGTACGGCCCG c.120
L G A A G G F P G A A S P G A D P Y G P p.40
. . . . . . g.5348
CGCGAGCCCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCC c.180
R E P P P P P P R Y D P C A A A A P G A p.60
. . . . . . g.5408
CCGGGCCCGCCGCCGCCGCCGCACGCCTACCCGTTTGCGCCGGCCGCCGGGGCCGCCACC c.240
P G P P P P P H A Y P F A P A A G A A T p.80
. . . . . . g.5468
AGCGCCGCCGCCGAGCCCGAGGGCCCCGGGGCCAGCTGCGCGGCCGCAGCCAAGGCGCCG c.300
S A A A E P E G P G A S C A A A A K A P p.100
. . . . . . g.5528
GTGAAGAAGAACGCGAAGGTGGCCGGTGTGAGCGTGCAGCTAGAGATGAAGGCGCTGTGG c.360
V K K N A K V A G V S V Q L E M K A L W p.120
. . . . . | 04 . g.7548
GACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAG | GCGGATGTTT c.420
D E F N Q L G T E M I V T K A G R | R M F p.140
. . . . . . g.7608
CCCACCTTCCAAGTGAAGCTCTTCGGCATGGATCCCATGGCCGACTATATGCTGCTCATG c.480
P T F Q V K L F G M D P M A D Y M L L M p.160
. . . | 05 . . . g.8480
GACTTCGTGCCGGTGGACGATAAGCGCTACCG | GTACGCCTTCCACAGCTCCTCCTGGCTG c.540
D F V P V D D K R Y R | Y A F H S S S W L p.180
. . . . . . g.8540
GTGGCGGGGAAGGCCGACCCTGCCACGCCAGGCCGCGTGCACTACCACCCGGACTCGCCT c.600
V A G K A D P A T P G R V H Y H P D S P p.200
. . . . . . g.8600
GCCAAGGGCGCGCAGTGGATGAAGCAAATCGTGTCCTTCGACAAGCTCAAGCTGACCAAC c.660
A K G A Q W M K Q I V S F D K L K L T N p.220
. . | 06 . . . . g.9291
AACCTACTGGACGACAACGGCCAC | ATTATTCTGAATTCCATGCACAGATACCAGCCCCGC c.720
N L L D D N G H | I I L N S M H R Y Q P R p.240
. . . . . . g.9351
TTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTC c.780
F H V V Y V D P R K D S E K Y A E E N F p.260
. . . . . . g.9411
AAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGG c.840
K T F V F E E T R F T A V T A Y Q N H R p.280
| 07 . . . . . . g.10115
| ATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCT c.900
| I T Q L K I A S N P F A K G F R D C D P p.300
| 08 . . . . . g.10251
GAGGACTG | GCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGC c.960
E D W | P R N H R P G A L P L M S A F A R p.320
. . . . | 09 . g.10697
TCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAG | ACGCGGCTGAG c.1020
S R N P V A S P T Q P S G T E K D | A A E p.340
. . . . . . g.10757
GCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCAT c.1080
A R R E F Q R D A G G P A V L G D P A H p.360
. . . . . . g.10817
CCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGC c.1140
P P Q L L A R V L S P S L P G A G G A G p.380
. . . . . . g.10877
GGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTG c.1200
G L V P L P G A P G G R P S P P N P E L p.400
. . . . . . g.10937
CGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCC c.1260
R L E A P G A S E P L H H H P Y K Y P A p.420
. . . . . . g.10997
GCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGC c.1320
A A Y D H Y L G A K S R P A P Y P L P G p.440
. . . . . . g.11057
CTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGT c.1380
L R G H G Y H P H A H P H H H H H P V S p.460
. . . . . . g.11117
CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCGCGGCCGCCAACATGTACTCG c.1440
P A A A A A A A A A A A A A A A N M Y S p.480
. . . . g.11165
TCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAA c.1488
S A G A A P P G S Y D Y C P R X p.495
. . . . . . g.11225
cacgggccctgtcgcgctcccgccccggtcctgcacagccccgaagttcgccgggcccgg c.*60
. . . . . . g.11285
ccaccctgccccaagggcaagcaaggaatacgttcccccagccccaggggccaccgcggc c.*120
. . . . . . g.11345
tctccccttccccagcctcgaagccatgggggccccctcgccacccccagccccttgggc c.*180
. . . . . . g.11405
tatcgaagtatccggttccccagtccctggagccaccgcgggtccttccccggccccgag c.*240
. . . . . . g.11465
ggccaagggggtccccgcccgccagtgccaaagcgcccggtcggaggcggaaggaagtga c.*300
. . . . . . g.11525
tatttattgttctccccgagaccgcgtcgcccgcggcccggccggcagttgcagtgtaga c.*360
. . . . . . g.11585
cagcccgagagccccgcctgcaggcggtgtagatacatgtagatactgtagatactgtag c.*420
. . . . g.11630
ataccgccccggcgccgacttgataaacggtttcgcctcttttgg c.*465
(downstream sequence)
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