(used for variant description)
(last modified June 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001109878.1 in the TBX22 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008998.1, covering TBX22 transcript NM_001109878.1.
(upstream sequence)
. g.5014
cttctctgggctct c.-121
. . . . . . g.5074
tgagaagagctgctgcaggcatttgcagagtgaatgagctctgactgagacttgacttca c.-61
. . . . . . | 02 g.12514
gaaccactgggctggcctggcctcttgacacagcaacacactgcttcttgccttccag | gg c.-1
. . . . . . g.12574
ATGGCTCTGAGCTCTCGGGCGCGTGCCTTCTCCGTGGAAGCCTTGGTGGGGAGACCCAGC c.60
M A L S S R A R A F S V E A L V G R P S p.20
. . . . . . g.12634
AAAAGAAAACTCCAAGACCCAATACAGGCGGAGCAGCCTGAGCTGCGGGAGAAAAAGGGC c.120
K R K L Q D P I Q A E Q P E L R E K K G p.40
. . . . . | 03 . g.13309
GGAGAGGAAGAGGAGGAGAGAAGGAGCAGCGCTGCAGGGAAGAGCGAGCCGCTTG | AAAAA c.180
G E E E E E R R S S A A G K S E P L E | K p.60
. . . . . . g.13369
CAACCTAAGACAGAGCCCTCAACATCTGCTTCCTCTGGCTGCGGCAGCGACAGCGGCTAC c.240
Q P K T E P S T S A S S G C G S D S G Y p.80
. . . . . . g.13429
GGCAACAGCTCTGAAAGTCTGGAAGAGAAAGATATTCAAATGGAGCTTCAAGGATCTGAA c.300
G N S S E S L E E K D I Q M E L Q G S E p.100
. . . . . | 04 . g.14311
CTGTGGAAAAGATTCCATGACATCGGGACTGAGATGATCATTACTAAAGCGGGCAG | GCGG c.360
L W K R F H D I G T E M I I T K A G R | R p.120
. . . . . . g.14371
ATGTTCCCCTCTGTTCGGGTCAAGGTGAAAGGGTTGGATCCAGGGAAGCAGTACCATGTG c.420
M F P S V R V K V K G L D P G K Q Y H V p.140
. . . | 05 . . g.15869
GCCATCGATGTGGTGCCGGTGGATTCCAAACGCTATAG | GTACGTCTATCACAGCTCACAG c.480
A I D V V P V D S K R Y R | Y V Y H S S Q p.160
. . . . . . g.15929
TGGATGGTAGCTGGGAATACAGACCATTTGTGCATCATTCCTAGATTCTATGTTCACCCG c.540
W M V A G N T D H L C I I P R F Y V H P p.180
. . . . . . g.15989
GACTCACCCTGCTCGGGAGAGACCTGGATGCGGCAGATCATCAGCTTTGATCGCATGAAA c.600
D S P C S G E T W M R Q I I S F D R M K p.200
. . . | 06 . . . g.16975
CTCACCAACAATGAGATGGATGACAAAGGCCAC | ATCATTCTGCAATCCATGCATAAGTAC c.660
L T N N E M D D K G H | I I L Q S M H K Y p.220
. . . . . . g.17035
AAACCCCGAGTGCACGTGATAGAGCAAGGCAGCAGTGTTGACCTGTCCCAGATTCAGTCC c.720
K P R V H V I E Q G S S V D L S Q I Q S p.240
. . . . . . g.17095
TTGCCCACTGAAGGTGTTAAAACATTCTCCTTTAAAGAAACTGAGTTCACCACAGTAACG c.780
L P T E G V K T F S F K E T E F T T V T p.260
. | 07 . . . . g.17542
GCTTACCAAAACCAACAG | ATTACGAAACTAAAAATAGAAAGAAATCCTTTTGCTAAAGGA c.840
A Y Q N Q Q | I T K L K I E R N P F A K G p.280
. . | 08 . . . . g.18272
TTTAGAGATACTGGAAGAAACAG | GGGTGTATTGGATGGGCTTTTAGAGACCTACCCATGG c.900
F R D T G R N R | G V L D G L L E T Y P W p.300
. . . . | 09 . g.20753
AGGCCTTCTTTCACTCTCGATTTTAAAACCTTTGGCGCAGACACACAAA | GTGGAAGCAGT c.960
R P S F T L D F K T F G A D T Q S | G S S p.320
. . . . . . g.20813
GGCTCATCTCCAGTGACCTCTAGTGGAGGGGCCCCCTCTCCTTTGAACTCCTTACTTTCT c.1020
G S S P V T S S G G A P S P L N S L L S p.340
. . . . . . g.20873
CCACTTTGCTTTTCACCTATGTTTCATTTACCTACAAGCTCCCTTGGAATGCCCTGTCCA c.1080
P L C F S P M F H L P T S S L G M P C P p.360
. . . . . . g.20933
GAGGCATACCTGCCCAATGTCAACCTGCCTCTATGCTACAAGATTTGTCCAACTAATTTT c.1140
E A Y L P N V N L P L C Y K I C P T N F p.380
. . . . . . g.20993
TGGCAACAGCAACCTCTTGTTTTACCGGCTCCTGAAAGACTAGCAAGCAGCAACAGTTCT c.1200
W Q Q Q P L V L P A P E R L A S S N S S p.400
. . . . . . g.21053
CAGTCTTTAGCCCCACTCATGATGGAAGTGCCTATGTTATCTTCCCTGGGGGTCACCAAT c.1260
Q S L A P L M M E V P M L S S L G V T N p.420
. . . . . . g.21113
TCAAAAAGCGGTTCATCTGAAGACTCCAGTGATCAGTATCTACAAGCACCTAATTCTACC c.1320
S K S G S S E D S S D Q Y L Q A P N S T p.440
. . . . . . g.21173
AATCAAATGTTATATGGATTACAGTCACCTGGAAATATTTTTCTGCCAAACTCCATCACC c.1380
N Q M L Y G L Q S P G N I F L P N S I T p.460
. . . . . . g.21233
CCAGAAGCACTTAGTTGCTCCTTTCATCCTTCCTATGACTTTTATAGATACAATTTCTCT c.1440
P E A L S C S F H P S Y D F Y R Y N F S p.480
. . . . . . g.21293
ATGCCATCTAGACTGATAAGTGGTTCCAACCATCTTAAAGTGAATGACGACAGTCAAGTT c.1500
M P S R L I S G S N H L K V N D D S Q V p.500
. . . . . . g.21353
TCTTTTGGAGAAGGCAAATGTAATCATGTTCATTGGTATCCAGCAATTAACCATTACCTT c.1560
S F G E G K C N H V H W Y P A I N H Y L p.520
g.21356
TAG c.1563
X p.520
. . . . . . g.21416
taagacaatagcatttctagaacaattacatgtaaacaaatattttctttatttgtagcc c.*60
. . . . . . g.21476
aaagaaatttcaacagttattgggcttaaaaagcatcattacaatacagtatttctttgt c.*120
. . . . . . g.21536
tatacatttaaagatttaaagtgccttatcaaataatattcatgaagagttgtttataat c.*180
. . . . . . g.21596
gtcaaatgaaacctacaggaatctctgattacagtggccttgagcttcaaaatgagatat c.*240
. . . . . . g.21656
gcaataaatattatttgatgatactccaccagtgaaaattgatgctaagtgatgggattt c.*300
. . . . . . g.21716
tcaattatactgaagctagttcaccacgttaactgcattttacacattgacaatgacaaa c.*360
. . . . . . g.21776
aagaagatggatgtaattctcatgaaagcagtgaagcaatttcagttttaaaaatgaaga c.*420
. . . . . . g.21836
tcggctttcatgtaattatctagtagttgtagaagaaaatttaattatttgtttgcctca c.*480
. . . . . . g.21896
tgcctttatactttgctgttgaagaaactactaatctcaatttaagatacaaataaggac c.*540
. . . . . . g.21956
acaaactttcaagtattatattttatttatctttgtagcctaaagaccatttaatcttga c.*600
. . . . . g.22014
aggaacacaaagatcaaatgaaaagtaaaacactctaaataaatttgcttttattttc c.*658
(downstream sequence)
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