(used for variant description)
(last modified November 1, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_014729.2 in the TOX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011993.1, covering TOX transcript NM_014729.2.
(upstream sequence)
. . . . g.5041
ggtgcgcgccgcggcttgggggagagttgagcgcttttccc c.-181
. . . . . . g.5101
ccctcttttttttttttttcctcttcttcttaaacaaaccacaaacggatgtgagggaag c.-121
. . . . . . g.5161
gaaggtgtttcttttactcctgagcccagacacctcactctgttccgtctaagcttgttt c.-61
. . . . . . g.5221
tgctgaacacttttttttaaaaaaggaaaaagaaaaggagttgcttgatgtgagagtgaa c.-1
. . . . . . g.5281
ATGGACGTAAGATTTTATCCACCTCCAGCCCAGCCCGCCGCTGCGCCCGACGCTCCCTGT c.60
M D V R F Y P P P A Q P A A A P D A P C p.20
. . . . | 02 . . g.164218
CTGGGACCTTCTCCCTGCCTGGACCCCTACTATTGCAACAAG | TTTGACGGTGAGAACATG c.120
L G P S P C L D P Y Y C N K | F D G E N M p.40
. . . . | 03 . g.184676
TATATGAGCATGACAGAGCCGAGCCAGGACTATGTGCCAGCCAGCCAG | TCCTACCCTGGT c.180
Y M S M T E P S Q D Y V P A S Q | S Y P G p.60
. . . . . . g.184736
CCAAGCCTGGAAAGTGAAGACTTCAACATTCCACCAATTACTCCTCCTTCCCTCCCAGAC c.240
P S L E S E D F N I P P I T P P S L P D p.80
. . . . . . g.184796
CACTCGCTGGTGCACCTGAATGAAGTTGAGTCTGGTTACCATTCTCTGTGTCACCCCATG c.300
H S L V H L N E V E S G Y H S L C H P M p.100
. . . . . . g.184856
AACCATAATGGCCTGCTACCATTTCATCCACAAAACATGGACCTCCCTGAAATCACAGTC c.360
N H N G L L P F H P Q N M D L P E I T V p.120
. . . . . | 04 . g.272412
TCCAATATGCTGGGCCAGGATGGAACACTGCTTTCTAATTCCATTTCTGTG | ATGCCAGAT c.420
S N M L G Q D G T L L S N S I S V | M P D p.140
. . . . . . g.272472
ATACGAAACCCAGAAGGAACTCAGTACAGTTCCCATCCTCAGATGGCAGCCATGAGACCA c.480
I R N P E G T Q Y S S H P Q M A A M R P p.160
. . . . . . g.272532
AGGGGCCAGCCTGCAGACATCAGGCAGCAGCCAGGAATGATGCCACATGGCCAGCTGACT c.540
R G Q P A D I R Q Q P G M M P H G Q L T p.180
. . . . . . g.272592
ACCATTAACCAGTCACAGCTAAGTGCTCAACTTGGTTTGAATATGGGAGGAAGCAATGTT c.600
T I N Q S Q L S A Q L G L N M G G S N V p.200
. . . . . . g.272652
CCCCACAACTCACCATCTCCACCTGGAAGCAAGTCTGCAACTCCTTCACCATCCAGTTCA c.660
P H N S P S P P G S K S A T P S P S S S p.220
. . . | 05 . . . g.285924
GTGCATGAAGATGAAGGCGATGATACCTCTAAG | ATCAATGGTGGAGAGAAGCGGCCTGCC c.720
V H E D E G D D T S K | I N G G E K R P A p.240
. . . . . . g.285984
TCTGATATGGGGAAAAAACCAAAAACTCCCAAAAAGAAGAAGAAGAAGGATCCCAATGAG c.780
S D M G K K P K T P K K K K K K D P N E p.260
. . . . . . g.286044
CCCCAGAAGCCTGTGTCTGCCTATGCGTTATTCTTTCGTGATACTCAGGCCGCCATCAAG c.840
P Q K P V S A Y A L F F R D T Q A A I K p.280
. . . . . . g.286104
GGCCAAAATCCAAACGCTACCTTTGGCGAAGTCTCTAAAATTGTGGCTTCAATGTGGGAC c.900
G Q N P N A T F G E V S K I V A S M W D p.300
. . | 06 . . . . g.297342
GGTTTAGGAGAAGAGCAAAAACAG | GTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAG c.960
G L G E E Q K Q | V Y K K K T E A A K K E p.320
. . . . | 07 . . g.308499
TACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAG | AGCTACAGTGAACCT c.1020
Y L K Q L A A Y R A S L V S K | S Y S E P p.340
. . . . . . g.308559
GTTGACGTGAAGACATCTCAACCTCCTCAGCTGATCAATTCGAAGCCGTCGGTGTTCCAT c.1080
V D V K T S Q P P Q L I N S K P S V F H p.360
. . . . . . g.308619
GGGCCCAGCCAGGCCCACTCGGCCCTGTACCTAAGTTCCCACTATCACCAACAACCGGGA c.1140
G P S Q A H S A L Y L S S H Y H Q Q P G p.380
. . . . . . g.308679
ATGAATCCTCACCTAACTGCCATGCATCCTAGTCTCCCCAGGAACATAGCCCCCAAGCCG c.1200
M N P H L T A M H P S L P R N I A P K P p.400
. . . . . . g.308739
AATAACCAAATGCCAGTGACTGTCTCTATAGCAAACATGGCTGTGTCCCCTCCTCCTCCC c.1260
N N Q M P V T V S I A N M A V S P P P P p.420
. . . . . . g.308799
CTCCAGATCAGCCCGCCTCTTCACCAGCATCTCAACATGCAGCAGCACCAGCCGCTCACC c.1320
L Q I S P P L H Q H L N M Q Q H Q P L T p.440
. . . . . . g.308859
ATGCAGCAGCCCCTTGGGAACCAGCTCCCCATGCAGGTCCAGTCTGCCTTACACTCACCC c.1380
M Q Q P L G N Q L P M Q V Q S A L H S P p.460
. | 08 . . . . . g.315987
ACCATGCAGCAA | GGATTTACTCTTCAACCCGACTATCAGACTATTATCAATCCTACATCT c.1440
T M Q Q | G F T L Q P D Y Q T I I N P T S p.480
. . . . . . g.316047
ACAGCTGCACAAGTTGTCACCCAGGCAATGGAGTATGTGCGTTCGGGGTGCAGAAATCCT c.1500
T A A Q V V T Q A M E Y V R S G C R N P p.500
. . . . | 09 . . g.316441
CCCCCACAACCGGTGGACTGGAATAACGACTACTGCAGTAGTGG | GGGCATGCAGAGGGAC c.1560
P P Q P V D W N N D Y C S S G | G M Q R D p.520
. . g.316462
AAAGCACTGTACCTTACTTGA c.1581
K A L Y L T X p.526
. . . . . . g.316522
gaatctgaacacctcttctttccactgaggaattcagggaagtgttttcaccatggattg c.*60
. . . . . . g.316582
ctttgtacagtcaaggcagttctccattttattagaaaatacaagttgctaagcacttag c.*120
. . . . . . g.316642
gaccatttgagcttgtgggtcacccactctggaagaaatagtcatgcttctttattattt c.*180
. . . . . . g.316702
ttttaatcctttatggacattgtttttcttcttccctgaaggaaatttggaccattcaga c.*240
. . . . . . g.316762
ttttatgttggttttttgctgtgaagtgctgcgctctagtaactgccttagcaactgtag c.*300
. . . . . . g.316822
atgtctcggataaaagtcctggattttccattggttttcataatgggtgtttatatgaaa c.*360
. . . . . . g.316882
ctactaaagactttttaaatggcttgatgtagcagtcatagcaagtttgtaaatagcatc c.*420
. . . . . . g.316942
tatgttacactctcctagagtataaaatgtgaatgtttttgtagctaaattgtaattgaa c.*480
. . . . . . g.317002
actggctcattccagtttattgatttcacaataggggttaaattggcaaacattcatatt c.*540
. . . . . . g.317062
tttacttcatttttaaaacaactgactgatagttctatattttcaaaatatttgaaaata c.*600
. . . . . . g.317122
aaaagtattcccaagtgattttaatttaaaaacaaattggctttgtctcattgatcagac c.*660
. . . . . . g.317182
aaaaagaaactagtattaagggaagcgcaaacacatttattttgtactgcagaaaaattg c.*720
. . . . . . g.317242
cttttttgtatcactttttgtgtaatggttagtaaatgtcatttaagtccttttatgtat c.*780
. . . . . . g.317302
aaaactgccaaatgcttacctggtattttattagatgcagaaacagattggaaacagcta c.*840
. . . . . . g.317362
aattacaacttttacatatggctctgtcttattgtttcttcatactgtgtctgtatttaa c.*900
. . . . . . g.317422
tctttttttatggaacctgttgcgcctatttatgaaataataaatataggtgtttgtaag c.*960
. . . . . . g.317482
taaatttgttagtatttgaaagaggtttctttgatgttttaacttttgctggcaaaaaaa c.*1020
. . . . . . g.317542
aattcacgcttggtgtgaatactttattatttagtttttacagtaacatgaataaagcca c.*1080
. . . . . . g.317602
aacctgcttttcatttagcagcaaattaaagtaaccagtccttatttctgcatttctttg c.*1140
. . . . . . g.317662
gttgatgcaaacaaaaaactattatatttaagaactttatttcttcatacgacataacag c.*1200
. . . . . . g.317722
aattgccctccaagtcacacaagctccaagactaaacaaacagacaggtcctctgtctta c.*1260
. . . . . . g.317782
aaaaggttacttcttggttctcagctggttctagtcaattctgaaccaccaccccccgcc c.*1320
. . . . . . g.317842
ccccgcaaaaaagtaaaagtcaaaccaaacttcctcaagctgcatgcttttcacaaaatc c.*1380
. . . . . . g.317902
cagaaagcatttaagaattgaactaggggctggaagaagtgaaagggaagcatctaaaaa c.*1440
. . . . . . g.317962
tgaaaggtgagtaaccagatagcaaaagaaaagggaaagccatccaaatttgaaagctgt c.*1500
. . . . . . g.318022
tgatagaaattgagattcttgctgtcttttgtgcctctacaagctactactcattccaga c.*1560
. . . . . . g.318082
attcctgggtcttccaagaggattcttaaggtaccagagatttgctagggaaccaaaagt c.*1620
. . . . . . g.318142
gcttgagaatctgcctgagggcttgcatagctttcacattaaaaaaagaaaaagctagca c.*1680
. . . . . . g.318202
gatttactcctttttaggggatcatatcaagaaagttagtctggttggaaaccaagagaa c.*1740
. . . . . . g.318262
tggctgatgtctctttcttggaatatgtgaaataaatttagcagtttaactaaatacaaa c.*1800
. . . . . . g.318322
tatatgcattgtgtaatccactcagaattaaacagacaaaaggtatgcttgctttggaat c.*1860
. . . . . . g.318382
gattttaggcattgtacaaccttgaatcacttgagcatgtaataactaataaataatgca c.*1920
. . . . . . g.318442
gatccatgtgattattaaaatgactgtagctgagagctctaattttcctgtcttgaaact c.*1980
. . . . . . g.318502
gtataagaactcatgtgattaagttcacagtttattgtttgtctgtttagtattttagaa c.*2040
. . . . . . g.318562
atataccagcactactaattaactaatgtcttttatttattatattatgataaagtaaaa c.*2100
. . . . . . g.318622
atttcacttgcattaagtctaaactgagaaggtaattactgggaggagaatgagcagctt c.*2160
. . . . . . g.318682
tgactttgacaggcggtttgtgcaggaaagcacagtgccgtgttgtttacagcttttcta c.*2220
. . . . . . g.318742
gagcagctgtgcgaccagggtagagagtgttgaaattcaataccaaatacagtaaaaaca c.*2280
. . . . g.318791
aatgtaaataaaagaaaacacatcatcaataaaactgttattatgcgtg c.*2329
(downstream sequence)
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