(used for variant description)
(last modified January 5, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_152787.3 in the TAB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012845.1, covering TAB3 transcript NM_152787.3.
(upstream sequence)
g.5003
ccc c.-661
. . . . . . g.5063
gacggaagccctgaagccagagcttgcttgccaagctctcgctcagaccggatctaggaa c.-601
. . . . . . g.5123
atacgaggcgggcctcggtgggagggacgcactgagggaggagggaggaaagggggcggc c.-541
. . . . . . g.5183
ggcggcggcggcggctcacaccggatcccggccctgcacggcgcgtaccctgggggttcg c.-481
. . . . . . g.5243
ggcggggaagcggcgccggcccggaccccccgcgggagtaggcgacgggcgtgagggcga c.-421
. . . . | 02. . g.22615
ggcggcggcggcggcggccagagagcagcagccgcctg | gacactgtcttcagccttttct c.-361
. . . . . . g.22675
tcaagtttttgaccgtggattgtgttgtgtcaaactggatgaattatcttagttgaattt c.-301
. . . | 03 . . . g.26884
tcaccagttgaaaaattggag | atttctagactactgaaaagaagttgctttcagagctgg c.-241
. . . . . | 04 . g.27190
agatgtgaataaaatttctgtgccagggttgataaaccatcttgag | gattccatccagga c.-181
. . . . . . g.27250
aaccccatcacagttggttgttatgtctccttagactcctcttggctgtgacagtttctc c.-121
. . . | 05 . . g.34746
agacttttgttcttgaggagtactgatcag | aaaatgactgtggtgctagaagatcattac c.-61
. . . . . . g.34806
ttttggaaagccggttaacatccatttcctaagagaaacttggccaccatttgctctggc c.-1
. . . . . . g.34866
ATGGCGCAAAGCAGCCCACAGCTTGATATTCAGGTTCTCCATGATCTTCGACAACGTTTC c.60
M A Q S S P Q L D I Q V L H D L R Q R F p.20
. . . . | 06 . . g.38850
CCTGAAATTCCAGAGGGCGTGGTGTCTCAGTGCATGTTACAG | AATAACAACAATCTTGAA c.120
P E I P E G V V S Q C M L Q | N N N N L E p.40
. . . . . . g.38910
GCCTGTTGCCGAGCCCTTTCCCAGGAGAGTAGCAAATACTTATATATGGAATACCATAGT c.180
A C C R A L S Q E S S K Y L Y M E Y H S p.60
. . . . . . g.38970
CCAGATGACAATAGGATGAATAGAAATCGCCTTTTACATATTAACCTGGGTATCCATTCT c.240
P D D N R M N R N R L L H I N L G I H S p.80
. . . . . . g.39030
CCTAGTAGCTATCACCCAGGAGATGGAGCCCAACTTAATGGTGGTCGAACACTGGTACAT c.300
P S S Y H P G D G A Q L N G G R T L V H p.100
. . . . . . g.39090
AGCTCAAGTGATGGACATATTGATCCTCAGCATGCAGCAGGTAAACAGCTGATATGTTTA c.360
S S S D G H I D P Q H A A G K Q L I C L p.120
. . . . . . g.39150
GTTCAAGAACCACACTCAGCTCCAGCTGTTGTTGCTGCTACTCCCAACTACAATCCATTT c.420
V Q E P H S A P A V V A A T P N Y N P F p.140
. . . . . . g.39210
TTTATGAACGAACAGAACAGAAGTGCAGCTACTCCTCCTTCACAACCACCTCAACAGCCA c.480
F M N E Q N R S A A T P P S Q P P Q Q P p.160
. . . . . . g.39270
TCTTCCATGCAAACAGGAATGAATCCGTCTGCTATGCAAGGGCCTTCACCACCACCGCCA c.540
S S M Q T G M N P S A M Q G P S P P P P p.180
. . . . . . g.39330
CCTCCTTCATACATGCACATACCTCGGTATAGTACAAATCCAATTACTGTTACAGTATCC c.600
P P S Y M H I P R Y S T N P I T V T V S p.200
. . . . . . g.39390
CAGAACCTCCCTTCTGGACAGACTGTACCAAGAGCTTTACAAATTCTTCCACAAATTCCA c.660
Q N L P S G Q T V P R A L Q I L P Q I P p.220
. . . . . . g.39450
AGCAATCTCTATGGGTCTCCTGGTTCTATTTATATTAGACAGACATCTCAGAGTTCATCA c.720
S N L Y G S P G S I Y I R Q T S Q S S S p.240
. . . . . . g.39510
GGAAGACAAACTCCTCAGAGTACGCCGTGGCAGTCCTCACCACAGGGCCCAGTGCCTCAC c.780
G R Q T P Q S T P W Q S S P Q G P V P H p.260
. . . . . . g.39570
TATAGCCAGCGTCCTTTACCTGTTTATCCACACCAACAGAACTATCAGCCTTCTCAGTAT c.840
Y S Q R P L P V Y P H Q Q N Y Q P S Q Y p.280
. . . . . . g.39630
TCTCCCAAACAGCAGCAGATCCCTCAGTCTGCTTACCATTCACCACCTCCTTCTCAATGT c.900
S P K Q Q Q I P Q S A Y H S P P P S Q C p.300
. . . . . . g.39690
CCTTCACCCTTCAGCTCTCCACAGCATCAAGTGCAACCTTCCCAGTTGGGCCACATCTTT c.960
P S P F S S P Q H Q V Q P S Q L G H I F p.320
. . . . . . g.39750
ATGCCACCTAGTCCTTCAACTACTCCACCCCATCCATATCAACAAGGACCTCCTAGCTAT c.1020
M P P S P S T T P P H P Y Q Q G P P S Y p.340
. . . . . . g.39810
CAGAAACAGGGAAGCCATTCAGTAGCCTATCTTCCATACACAGCATCTAGTTTATCCAAA c.1080
Q K Q G S H S V A Y L P Y T A S S L S K p.360
. . . . . . g.39870
GGTTCCATGAAGAAGATAGAAATTACAGTTGAACCTTCTCAAAGACCTGGGACAGCAATT c.1140
G S M K K I E I T V E P S Q R P G T A I p.380
. . . . . . g.39930
AATAGGAGTCCTTCACCCATCAGTAATCAACCATCTCCATGGAATCAACACTCACTGTAC c.1200
N R S P S P I S N Q P S P W N Q H S L Y p.400
. . . . . . g.39990
ACAGCCACCACGCCACCTTCAAGTTCTCCTTCAAGAGGGATATCTAGTCAACCAAAACCT c.1260
T A T T P P S S S P S R G I S S Q P K P p.420
. . . . . . g.40050
CCATTTAGTGTTAATCCTGTGTATATTACATATACACAGCCAACTGGACCTTCTTGTACT c.1320
P F S V N P V Y I T Y T Q P T G P S C T p.440
. . . . . . g.40110
CCATCACCATCTCCTCGAGTGATACCAAACCCAACTACAGTTTTTAAAATTACCGTAGGC c.1380
P S P S P R V I P N P T T V F K I T V G p.460
. . . . . . g.40170
CGAGCAACGACTGAAAATCTTTTAAATTTAGTGGACCAAGAAGAGCGCTCTGCAGCACCA c.1440
R A T T E N L L N L V D Q E E R S A A P p.480
. . . . . . g.40230
GAACCTATTCAGCCCATTTCAGTGATACCAGGCTCTGGGGGAGAAAAGGGAAGCCATAAA c.1500
E P I Q P I S V I P G S G G E K G S H K p.500
. . . . | 07 . g.41467
TATCAGAGAAGTTCTAGTTCTGGATCAGATGACTATGCCTACACACAAG | CCTTGCTGTTA c.1560
Y Q R S S S S G S D D Y A Y T Q A | L L L p.520
. . . . . . g.41527
CATCAACGAGCAAGGATGGAGAGGTTAGCAAAGCAACTGAAACTTGAGAAAGAGGAGCTA c.1620
H Q R A R M E R L A K Q L K L E K E E L p.540
. . . . . . g.41587
GAGCGGTTGAAGTCTGAAGTTAATGGTATGGAGCATGACCTGATGCAGAGACGGCTCAGA c.1680
E R L K S E V N G M E H D L M Q R R L R p.560
. . . | 08 . . . g.47780
AGAGTCAGCTGCACCACTGCGATCCCTACG | CCTGAGGAAATGACAAGATTGAGAAGCATG c.1740
R V S C T T A I P T | P E E M T R L R S M p.580
. . . . . . g.47840
AACAGACAACTCCAGATAAATGTTGACTGTACACTGAAAGAAGTTGACCTCCTTCAATCT c.1800
N R Q L Q I N V D C T L K E V D L L Q S p.600
| 09 . . . . . . g.51401
AGAG | GAAACTTTGATCCAAAAGCCATGAATAATTTTTATGACAACATAGAACCTGGCCCA c.1860
R G | N F D P K A M N N F Y D N I E P G P p.620
. . | 10 . . . g.60274
GTTGTACCACCCAAGCCATCTAAAAAAG | ACTCCTCAGACCCCTGCACAATTGAGAGAAAA c.1920
V V P P K P S K K D | S S D P C T I E R K p.640
. . . . . . g.60334
GCCCGAAGAATTAGCGTGACCTCCAAAGTACAGGCAGACATCCATGACACCCAGGCAGCA c.1980
A R R I S V T S K V Q A D I H D T Q A A p.660
. | 11 . . . . . g.62869
GCTGCAGATG | AGCATCGAACTGGCTCCACACAAAGTCCTCGGACACAACCTCGAGATGAA c.2040
A A D E | H R T G S T Q S P R T Q P R D E p.680
. . . . . . g.62929
GACTACGAAGGGGCTCCATGGAATTGTGATAGCTGCACCTTTCTTAACCACCCAGCACTA c.2100
D Y E G A P W N C D S C T F L N H P A L p.700
. . . g.62968
AATCGCTGTGAGCAGTGCGAGATGCCACGGTACACCTGA c.2139
N R C E Q C E M P R Y T X p.712
. . . . . . g.63028
attcagaaaagtctgcgccaggttgaaagtgaaactttgagcactaccagaagaaaagga c.*60
. . . . . . g.63088
aacctcgggactctattcatccacccagccttttcattttcgattgcacagcggggagga c.*120
. . . . . . g.63148
ggaatggctttgtggtcgtcgttgtgctcacgaaaggaaaaatggggaggtctttttttt c.*180
. . . . . . g.63208
ctcctttcttaactcactacagagtgagagatagaaagggatacttgaaactgggaaagg c.*240
. . . . . . g.63268
attcactctgtgaaagaatgtacacacagaagtcaagagctcttctgtggtggaatccca c.*300
. . . . . . g.63328
attgttaaagttactgctgagtggcccttattttttaaagtagtactttgaatcatagta c.*360
. . . . . . g.63388
tgaaatgctacagtttatgcaaactgtgaattcccagagcagacttacctggtcaccgct c.*420
. . . . . . g.63448
ctctggaaaaccaaggctccccgtgcttcttcccattgcttcctactaaagaggacaaca c.*480
. . . . . . g.63508
ggaaaaagcacctagaatatttggggggggggggcaaattaattaagggtatttgtaatt c.*540
. . . . . . g.63568
gctgcttttttcaggggtaatttccaacacacatacatgcacacaaacaaaatgttttaa c.*600
. . . . . . g.63628
aatgtgatttgtagcagtcaggaactaggcatatcatgcctttgtttaaaagtacaatca c.*660
. . . . . . g.63688
gaggtggtaagatgcctttggcttgtacagtgtgattcatcgagctctatcaacactggt c.*720
. . . . . . g.63748
aactaagacctacttatgccacataagagatgcatttttttaagttactgcatgttttta c.*780
. . . . . . g.63808
ttaaggccattggttttcaaaataacaagtccttacaaagtatgattttataaatgatat c.*840
. . . . . . g.63868
tctcgtaaaactgcgctttgccagtagcacagtgaatgtatgccaaatgcaagtccattc c.*900
. . . . . . g.63928
caaaatccatttggaaatcttgagctcagctgtggttcttaaacttttgcagtccatagg c.*960
. . . . . . g.63988
gccttttttttttccttccaattttgtgataaattcatgatgtttacagcacagataaaa c.*1020
. . . . . . g.64048
ctttgtgccataatcctaatttagctgaaatcaatattaactgttcaataaaaacttact c.*1080
. . . . . . g.64108
tgcatatgttaacaaaccagtgtgaggggaattacagttggccaacgacaaagttgcaca c.*1140
. . . . . . g.64168
ctgcattatttaggaaaggagggattgtcaaaaattattaagagaaaggtgaatatagag c.*1200
. . . . . . g.64228
gactttgaaacaacttttaaaatttaacataactgtatctagaggtcaattgagtctcta c.*1260
. . . . . . g.64288
caggcagttcagatcattttaaagcactccttatttatgaaatagaacttcagggtgcgg c.*1320
. . . . . . g.64348
ataagagatataaagtcatgtgactcactagggtgcatcgctggaaacttaatagcacat c.*1380
. . . . . . g.64408
ttcattaaggtctctgccattgttggagttccttcttagctcagaattggagttttggaa c.*1440
. . . . . . g.64468
tcttcccctcattttggtgagtataaacagcaataaagttagtaggttctcccatcctaa c.*1500
. . . . . . g.64528
aggattttacctgaggatatcgtcttaggaatatccatagacgctcccatcaggtttctc c.*1560
. . . . . . g.64588
ccccaacccccctacaccgcccccccacttctaatttagcagtaatctctggcagacctg c.*1620
. . . . . . g.64648
gaaaaacaagctgctcttaatagcataatgaaaccaaaggcgtaataactcatcatagtt c.*1680
. . . . . . g.64708
ttccatcagaatcatttcacactctgcctacagctttgaaaacattttttcatatgtgaa c.*1740
. . . . . . g.64768
aaactccccaaaatatatccactagtctcccaaaggaagcatggtaattaacactgataa c.*1800
. . . . . . g.64828
aaacatctctcacacaacaactgtggcaaaactgtgaaaataacggtgagaaagcagatg c.*1860
. . . . . . g.64888
ggcttaaaagcatggtccccaaaacaacgttcttcaaaggtttttgtaacactggtctct c.*1920
. . . . . . g.64948
gtctccaataacagtctagccgtcctactgttctgtaatatgcctttgcctttgtatggt c.*1980
. . . . . . g.65008
ttcatatctctttagtgatggtcaaccccacttggttttaagttacaatttaggggaaat c.*2040
. . . . . . g.65068
atatatatatatactgcttggtgtcctagctaaaaggtttaccagtattcatagtgatat c.*2100
. . . . . . g.65128
gctgaagtggaggcaattaacttggcagttgtcagttgagaatgaaagtagcatgtctga c.*2160
. . . . . . g.65188
aaacagtctgatgctttataaaaccatgtagatgactttaaaactattgcatgaaaatac c.*2220
. . . . . . g.65248
atcaaggttaataagctgttatacagtagatgcatggtttcaatcctttggtgatattat c.*2280
. . . . . . g.65308
ctagtcaatcattgttttcacctgccaggaaaagagagaaaacagtctattggataggtg c.*2340
. . . . . . g.65368
taaagggtggggtatgcggtatcagattgattttaaggaagttttgtacatgttaatttt c.*2400
. . . . . . g.65428
taattgtgcacaagtttcatatgccaacataggctgtattcagttttaaaataggcaaaa c.*2460
. . . . . . g.65488
tgacttgacactgataaatctggtatgtttaactgtgtcccatatgtagactgctttttg c.*2520
. . . . . . g.65548
cctatgaccagtttgaacaagaattcacccaactttcaagatgccttttcaaaaggatct c.*2580
. . . . . . g.65608
tgtagtcagttggtatgtacagacaattggcatggaagtggtaggatataaatcggatga c.*2640
. . . . . . g.65668
cgcctggctgctgaggtgccagctggatcagctggtgcacttcttgtttcttgtaagagg c.*2700
. . . . . . g.65728
tttctttaaaatgactagtttgatgtatctggtaacatataggcctgactatacatttta c.*2760
. . . . . . g.65788
cattatttcgctattttgtaaactgggattttagaaagcacgtttgccattttgttaaag c.*2820
. . . . . . g.65848
tacattgccccttaaattttggagtagtttttaaaagtttaaaatggtaatagaggagcc c.*2880
. . . . . . g.65908
agaaactttttaagcattgtaaaatgttttgaattgatattgactttgtttggaagagag c.*2940
. . . . . . g.65968
tagaggcagggggctttaaagaaacaaagaaatgcattgtaaaaatgtagttttagagca c.*3000
. . . . . . g.66028
aattaataatgatggtggggaaagtgttgctaatttgtttatttccctggaagaaatggg c.*3060
. . . . . . g.66088
aagtgtgataagcagtttaatttttaaggagctggtctcaattttagtactttttaatta c.*3120
. . . . . . g.66148
tgcaaataaatcaatgtttccttaaattttgtcattgctttgtcacagttgtctagggtt c.*3180
. . . . . . g.66208
catatccaaccttctgtggcaattcaattttatatagtcttttaagaggtaattgtaatg c.*3240
. . . . . . g.66268
tatttctgacagtataaacaaaaagaatataaggcatagaagaattgtcctctaaaaata c.*3300
. . . . . . g.66328
tcaatgatgtatcctggaatgtgaagatgtccctttatagttaaaaattgaattatttta c.*3360
. . . . . . g.66388
atattgtaccattgttagaccttgaatgagtccatgttaccgtgtgtgtctgtatatcta c.*3420
. . . . . . g.66448
tctgtagagaaagaaaaatgacaactgaaatgttacttttaaaaatcagaataaattggg c.*3480
. . . . . . g.66508
cactgtctgtgttgcaccactactgtatcttttcgaaagaattaacagtatttgcctatt c.*3540
. . . . . . g.66568
gtaaaggttaattctgatgacgttttcacattcaccagactttttttcctgtattatttg c.*3600
. . . . . . g.66628
catccccaaatatttaatacaagtagattctgcatggcttgggcattcagagattaatag c.*3660
. . . . . . g.66688
aatgatgactcaattttaattctaaagccatgaaaagttactttgagactgaacaattct c.*3720
. . . . . . g.66748
gaattatttatgatacccaatgtccatgtttctttccctactgtaaaagaattgatcagt c.*3780
. . . . . . g.66808
ttcttcattaaagcagcaaaaacttattaaatcttgtaaataccatgtctcttttagatt c.*3840
. . . . . . g.66868
tctgtgtatgctgtgaatgaaatcattttgagatgaaattgtacaaaggcattttaaaag c.*3900
. . . . . . g.66928
gctctgcatgcatcgtacctccaaacagtacatattcggaaagtcaaagattcctgcaaa c.*3960
. . g.66953
ataaataaactaaaagcaaacacta c.*3985
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 22
©2004-2020 Leiden University Medical Center