(used for variant description)
(last modified March 2, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_178012.4 in the TUBB2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016715.1, covering TUBB2B transcript NM_178012.4.
(upstream sequence)
. g.5011
gggggctcggg c.-181
. . . . . . g.5071
ctgggggcgcggcctgtgccggccgccccaccctccttgcataaaagccggagcccgcgg c.-121
. . . . . . g.5131
ggccggcgctctcagcccgtcggttcccgagcgccttcccggtgaccccgcagtgggtgt c.-61
. . . . . . g.5191
gtgaggggaggacggacagacccagacgccgccggaccaggaggacgctgacgaggcacc c.-1
. . . . . | 02. g.6068
ATGCGTGAGATCGTGCACATCCAGGCGGGCCAGTGCGGCAACCAGATCGGCGCCAAG | TTT c.60
M R E I V H I Q A G Q C G N Q I G A K | F p.20
. . . . . . g.6128
TGGGAGGTCATCAGTGATGAGCATGGGATTGACCCCACTGGCAGTTACCATGGAGACAGT c.120
W E V I S D E H G I D P T G S Y H G D S p.40
. . . . | 03 . . g.6479
GATTTGCAGCTGGAGAGAATCAATGTTTACTACAATGAAGCCACTG | GTAACAAATATGTT c.180
D L Q L E R I N V Y Y N E A T G | N K Y V p.60
. . . . . . g.6539
CCTCGGGCCATCCTCGTGGATCTGGAGCCAGGCACGATGGATTCGGTTAGGTCTGGACCA c.240
P R A I L V D L E P G T M D S V R S G P p.80
. . . | 04. . . g.6946
TTCGGCCAGATCTTCAGACCAGACAATTTCGTGTTTG | GCCAGAGTGGAGCCGGGAATAAC c.300
F G Q I F R P D N F V F G | Q S G A G N N p.100
. . . . . . g.7006
TGGGCCAAGGGCCACTACACAGAGGGAGCCGAGCTGGTCGACTCGGTCCTGGATGTGGTG c.360
W A K G H Y T E G A E L V D S V L D V V p.120
. . . . . . g.7066
AGGAAGGAGTCAGAGAGCTGTGACTGTCTCCAGGGCTTCCAGCTGACCCACTCTCTGGGG c.420
R K E S E S C D C L Q G F Q L T H S L G p.140
. . . . . . g.7126
GGCGGCACGGGGTCCGGGATGGGCACCCTGCTCATCAGCAAGATCCGGGAAGAGTACCCA c.480
G G T G S G M G T L L I S K I R E E Y P p.160
. . . . . . g.7186
GACCGCATCATGAACACCTTCAGCGTCATGCCCTCACCCAAGGTGTCAGACACGGTGGTG c.540
D R I M N T F S V M P S P K V S D T V V p.180
. . . . . . g.7246
GAGCCCTACAACGCCACCCTCTCGGTCCACCAGCTGGTGGAAAACACAGATGAAACCTAC c.600
E P Y N A T L S V H Q L V E N T D E T Y p.200
. . . . . . g.7306
TGCATTGACAACGAGGCCCTGTATGACATCTGCTTCCGCACCCTGAAGCTGACCACCCCC c.660
C I D N E A L Y D I C F R T L K L T T P p.220
. . . . . . g.7366
ACCTACGGGGACCTCAACCACCTGGTGTCGGCCACCATGAGCGGGGTCACCACCTGCCTG c.720
T Y G D L N H L V S A T M S G V T T C L p.240
. . . . . . g.7426
CGCTTCCCGGGCCAGCTGAACGCAGACCTGCGCAAGCTGGCGGTGAACATGGTGCCCTTC c.780
R F P G Q L N A D L R K L A V N M V P F p.260
. . . . . . g.7486
CCTCGCCTGCACTTCTTCATGCCCGGCTTCGCGCCCCTGACCAGCCGGGGCAGCCAGCAG c.840
P R L H F F M P G F A P L T S R G S Q Q p.280
. . . . . . g.7546
TACCGGGCGCTCACGGTGCCCGAGCTCACCCAGCAGATGTTCGACTCCAAGAACATGATG c.900
Y R A L T V P E L T Q Q M F D S K N M M p.300
. . . . . . g.7606
GCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCTGCCATCTTCCGGGGCCGC c.960
A A C D P R H G R Y L T V A A I F R G R p.320
. . . . . . g.7666
ATGTCCATGAAGGAGGTGGACGAGCAGATGCTCAACGTGCAGAACAAGAACAGCAGCTAC c.1020
M S M K E V D E Q M L N V Q N K N S S Y p.340
. . . . . . g.7726
TTCGTGGAGTGGATCCCCAACAACGTGAAGACGGCCGTGTGCGACATCCCGCCCCGCGGC c.1080
F V E W I P N N V K T A V C D I P P R G p.360
. . . . . . g.7786
CTGAAGATGTCGGCCACCTTCATCGGCAACAGCACGGCCATCCAGGAGCTGTTCAAGCGC c.1140
L K M S A T F I G N S T A I Q E L F K R p.380
. . . . . . g.7846
ATCTCCGAGCAGTTCACGGCCATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGC c.1200
I S E Q F T A M F R R K A F L H W Y T G p.400
. . . . . . g.7906
GAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCC c.1260
E G M D E M E F T E A E S N M N D L V S p.420
. . . . . . g.7966
GAGTACCAGCAGTACCAGGACGCCACGGCCGACGAACAAGGGGAGTTCGAGGAGGAGGAG c.1320
E Y Q Q Y Q D A T A D E Q G E F E E E E p.440
. g.7984
GGCGAGGACGAGGCGTAG c.1338
G E D E A X p.445
. . . . . . g.8044
atgcccccgcgagacgggttagggaaagcggaggaggaaagcgagggggtggggggcttc c.*60
. . . . . . g.8104
ccgggacgataacctggcagtggaaggaaagaagcatggtctactttaggtgtgcgctgg c.*120
. . . . . . g.8164
gtctctggtgctcttcactgttgcctgtcactttttttttccttttttgtaatattgatg c.*180
. . . . . . g.8224
acatcaatgtaacatttgagatatttctgaattactgttgtaatggctaaaatcacataa c.*240
. . . . . . g.8284
acgtttgtgtcggaatggtgtcctctctttctcttcctttttctctttattaacgattta c.*300
. . . . . . g.8344
aatgtaactttctgaacacattgcattgaattcttcctttaacaaaaagcaaaggcgtag c.*360
. . . . . . g.8404
gtaaaagctcaaatgaatttattctttcggtatggtaaaattgaaccaatcacagttaag c.*420
. . . . . . g.8464
atgagagatcaacctgagttttaaaatacctttaataaatattagttgaaaaaatgtcta c.*480
. g.8474
cttgaaagca c.*490
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center