(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TBK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering TBK1 transcript NM_013254.3.
(upstream sequence)
. . . g.1039
gcacccgcaccggcgcgccggccgtcggtcacgtggcct c.-121
. . . . . . g.1099
ccggccagggcttgcgaagccggaagtgtcctgagtctcgaggaggccgcgggagcccgc c.-61
. . . | 02 . . g.4811
cggcggtggcgcggcggagacccggctgg | tataacaagaggattgcctgatccagccaag c.-1
. . . . . . g.4871
ATGCAGAGCACTTCTAATCATCTGTGGCTTTTATCTGATATTTTAGGCCAAGGAGCTACT c.60
M Q S T S N H L W L L S D I L G Q G A T p.20
. . | 03. . . . g.9162
GCAAATGTCTTTCGTGGAAGACATAAG | AAAACTGGTGATTTATTTGCTATCAAAGTATTT c.120
A N V F R G R H K | K T G D L F A I K V F p.40
. . . . . . g.9222
AATAACATAAGCTTCCTTCGTCCAGTGGATGTTCAAATGAGAGAATTTGAAGTGTTGAAA c.180
N N I S F L R P V D V Q M R E F E V L K p.60
. . . . | 04 . g.13286
AAACTCAATCACAAAAATATTGTCAAATTATTTGCTATTGAAGAGGAG | ACAACAACAAGA c.240
K L N H K N I V K L F A I E E E | T T T R p.80
. . . . . . g.13346
CATAAAGTACTTATTATGGAATTTTGTCCATGTGGGAGTTTATACACTGTTTTAGAAGAA c.300
H K V L I M E F C P C G S L Y T V L E E p.100
. . . . . | 05 g.15843
CCTTCTAATGCCTATGGACTACCAGAATCTGAATTCTTAATTGTTTTGCGAGATGTGG | TG c.360
P S N A Y G L P E S E F L I V L R D V V | p.120
. . . . . . g.15903
GGTGGAATGAATCATCTACGAGAGAATGGTATAGTGCACCGTGATATCAAGCCAGGAAAT c.420
G G M N H L R E N G I V H R D I K P G N p.140
. . . . . . g.15963
ATCATGCGTGTTATAGGGGAAGATGGACAGTCTGTGTACAAACTCACAGATTTTGGTGCA c.480
I M R V I G E D G Q S V Y K L T D F G A p.160
. . . . . . g.16023
GCTAGAGAATTAGAAGATGATGAGCAGTTTGTTTCTCTGTATGGCACAGAAGAATATTTG c.540
A R E L E D D E Q F V S L Y G T E E Y L p.180
| 06 . . . . . . g.23230
| CACCCTGATATGTATGAGAGAGCAGTGCTAAGAAAAGATCATCAGAAGAAATATGGAGCA c.600
| H P D M Y E R A V L R K D H Q K K Y G A p.200
. . . . . . g.23290
ACAGTTGATCTTTGGAGCATTGGGGTAACATTTTACCATGCAGCTACTGGATCACTGCCA c.660
T V D L W S I G V T F Y H A A T G S L P p.220
. . . . | 07 . . g.28971
TTTAGACCCTTTGAAGGGCCTCGTAGGAATAAAGAAGTGAT | GTATAAAATAATTACAGGA c.720
F R P F E G P R R N K E V M | Y K I I T G p.240
. . . . . . g.29031
AAGCCTTCTGGTGCAATATCTGGAGTACAGAAAGCAGAAAATGGACCAATTGACTGGAGT c.780
K P S G A I S G V Q K A E N G P I D W S p.260
. . . | 08 . . . g.30810
GGAGACATGCCTGTTTCTTGCAGTCTTTCTCG | GGGTCTTCAGGTTCTACTTACCCCTGTT c.840
G D M P V S C S L S R | G L Q V L L T P V p.280
. . . . . . g.30870
CTTGCAAACATCCTTGAAGCAGATCAGGAAAAGTGTTGGGGTTTTGACCAGTTTTTTGCA c.900
L A N I L E A D Q E K C W G F D Q F F A p.300
. . . . . . g.30930
GAAACTAGTGATATACTTCACCGAATGGTAATTCATGTTTTTTCGCTACAACAAATGACA c.960
E T S D I L H R M V I H V F S L Q Q M T p.320
. . . | 09 . . . g.33271
GCTCATAAGATTTATATTCATAGCTATAATAC | TGCTACTATATTTCATGAACTGGTATAT c.1020
A H K I Y I H S Y N T | A T I F H E L V Y p.340
. . . . . . g.33331
AAACAAACCAAAATTATTTCTTCAAATCAAGAACTTATCTACGAAGGGCGACGCTTAGTC c.1080
K Q T K I I S S N Q E L I Y E G R R L V p.360
. . . . . . g.33391
TTAGAACCTGGAAGGCTGGCACAACATTTCCCTAAAACTACTGAGGAAAACCCTATATTT c.1140
L E P G R L A Q H F P K T T E E N P I F p.380
. . . . | 10 . g.34406
GTAGTAAGCCGGGAACCTCTGAATACCATAGGATTAATATATGAAAAAA | TTTCCCTCCCT c.1200
V V S R E P L N T I G L I Y E K I | S L P p.400
. . . . | 11 . g.34878
AAAGTACATCCACGTTATGATTTAGACGGGGATGCTAGCATGGCTAAG | GCAATAACAGGG c.1260
K V H P R Y D L D G D A S M A K | A I T G p.420
. . . . . . g.34938
GTTGTGTGTTATGCCTGCAGAATTGCCAGTACCTTACTGCTTTATCAGGAATTAATGCGA c.1320
V V C Y A C R I A S T L L L Y Q E L M R p.440
. . | 12 . . . . g.37467
AAGGGGATACGATGGCTGAT | TGAATTAATTAAAGATGATTACAATGAAACTGTTCACAAA c.1380
K G I R W L I | E L I K D D Y N E T V H K p.460
. . . . . . g.37527
AAGACAGAAGTTGTGATCACATTGGATTTCTGTATCAGAAACATTGAAAAAACTGTGAAA c.1440
K T E V V I T L D F C I R N I E K T V K p.480
| 13 . . . . . . g.39039
GT | ATATGAAAAGTTGATGAAGATCAACCTGGAAGCGGCAGAGTTAGGTGAAATTTCAGAC c.1500
V | Y E K L M K I N L E A A E L G E I S D p.500
. . | 14 . . . . g.44462
ATACACACCAAATTGTTGAGA | CTTTCCAGTTCTCAGGGAACAATAGAAACCAGTCTTCAG c.1560
I H T K L L R | L S S S Q G T I E T S L Q p.520
. . . . . . g.44522
GATATCGACAGCAGATTATCTCCAGGTGGATCACTGGCAGACGCATGGGCACATCAAGAA c.1620
D I D S R L S P G G S L A D A W A H Q E p.540
. . | 15 . . . . g.44676
GGCACTCATCCGAAAGACAGAAA | TGTAGAAAAACTACAAGTCCTGTTAAATTGCATGACA c.1680
G T H P K D R N | V E K L Q V L L N C M T p.560
. . . . | 16 . . g.45327
GAGATTTACTATCAGTTCAAAAAAGACAAAGCAGAACGTA | GATTAGCTTATAATGAAGAA c.1740
E I Y Y Q F K K D K A E R R | L A Y N E E p.580
. . | 17 . . . . g.45929
CAAATCCACAAATTTGATAA | GCAAAAACTGTATTACCATGCCACAAAAGCTATGACGCAC c.1800
Q I H K F D K | Q K L Y Y H A T K A M T H p.600
. . . . . . g.45989
TTTACAGATGAATGTGTTAAAAAGTATGAGGCATTTTTGAATAAGTCAGAAGAATGGATA c.1860
F T D E C V K K Y E A F L N K S E E W I p.620
| 18 . . . . . . g.46161
AG | AAAGATGCTTCATCTTAGGAAACAGTTATTATCGCTGACTAATCAGTGTTTTGATATT c.1920
R | K M L H L R K Q L L S L T N Q C F D I p.640
. . . | 19 . . g.46609
GAAGAAGAAGTATCAAAATATCAAGAATATACTAATGAG | TTACAAGAAACTCTGCCTCAG c.1980
E E E V S K Y Q E Y T N E | L Q E T L P Q p.660
. . . . . . g.46669
AAAATGTTTACAGCTTCCAGTGGAATCAAACATACCATGACCCCAATTTATCCAAGTTCT c.2040
K M F T A S S G I K H T M T P I Y P S S p.680
. . | 20 . . . . g.46942
AACACATTAGTAGAAATGACTCTTGG | TATGAAGAAATTAAAGGAAGAGATGGAAGGGGTG c.2100
N T L V E M T L G | M K K L K E E M E G V p.700
. . . | 21 . . g.50292
GTTAAAGAACTTGCTGAAAATAACCACATTTTAGAAAG | GTTTGGCTCTTTAACCATGGAT c.2160
V K E L A E N N H I L E R | F G S L T M D p.720
. . . g.50322
GGTGGCCTTCGCAACGTTGACTGTCTTTAG c.2190
G G L R N V D C L X p.729
. . . . . . g.50382
ctttctaatagaagtttaagaaaagtttccgtttgcacaagaaaataacgcttgggcatt c.*60
. . . . . . g.50442
aaatgaatgcctttatagatagtcacttgtttctacaattcagtatttgatgtggtcgtg c.*120
. . . . . . g.50502
taaatatgtacaatattgtaaatacataaaaaatatacaaatttttggctgctgtgaaga c.*180
. . . . . . g.50562
tgtaattttatcttttaacatttataattatatgaggaaatttgacctcagtgatcacga c.*240
. . . . . . g.50622
gaagaaagccatgaccgaccaatatgttgacatactgatcctctactctgagtggggcta c.*300
. . . . . . g.50682
aataagttattttctctgaccgcctactggaaatatttttaagtggaaccaaaataggca c.*360
. . . . . . g.50742
tccttacaaatcaggaagactgacttgacacgtttgtaaatggtagaacggtggctactg c.*420
. . . . . . g.50802
tgagtggggagcagaaccgcaccactgttatactgggataacaatttttttgagaaggat c.*480
. . . . . . g.50862
aaagtggcattattttattttacaaggtgcccagatcccagttatccttgtatccatgta c.*540
. . . . . . g.50922
atttcagatgaattattaagcaaacattttaaagtgaattcattattaaaaactattcat c.*600
. . . . . . g.50982
ttttttcctttggccataaatgtgtaattgtcattaaaattctaaggtcatttcaactgt c.*660
. . . . . . g.51042
tttaagctgtatatttctttaattctgcttactatttcatggaaaaaaataaatttctca c.*720
. g.51060
attttaatgtaaagagtt c.*738
(downstream sequence)
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