(used for variant description)
(last modified July 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_177987.2 in the TUBB8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046777.1, covering TUBB8 transcript NM_177987.2.
(upstream sequence)
. . . . . | 02. g.329
ATGAGGGAGATCGTGCTCACGCAGATCGGGCAGTGCGGGAATCAGATCGGCGCCAAG | TTC c.60
M R E I V L T Q I G Q C G N Q I G A K | F p.20
. . . . . . g.389
TGGGAGGTGATCTCTGATGAACATGCCATCGACTCCGCTGGCACCTACCACGGGGACAGC c.120
W E V I S D E H A I D S A G T Y H G D S p.40
. . . . | 03 . . g.527
CACCTGCAGCTGGAGCGCATCAACGTGTACTACAACGAGGCCAGCG | GTGGCAGGTACGTG c.180
H L Q L E R I N V Y Y N E A S G | G R Y V p.60
. . . . . . g.587
CCCCGCGCTGTGCTCGTGGATCTGGAGCCGGGCACCATGGACTCTGTGCGCTCGGGGCCC c.240
P R A V L V D L E P G T M D S V R S G P p.80
. . . | 04. . . g.1147
TTCGGGCAGGTCTTCAGGCCAGACAACTTCATCTTCG | GTCAGTGTGGGGCCGGAAACAAC c.300
F G Q V F R P D N F I F G | Q C G A G N N p.100
. . . . . . g.1207
TGGGCCAAGGGACACTACACCGAAGGCGCGGAGCTGATGGAGTCAGTGATGGACGTTGTC c.360
W A K G H Y T E G A E L M E S V M D V V p.120
. . . . . . g.1267
AGAAAGGAGGCTGAGAGCTGTGACTGCCTGCAGGGTTTCCAGCTGACCCACTCCCTGGGT c.420
R K E A E S C D C L Q G F Q L T H S L G p.140
. . . . . . g.1327
GGGGGGACTGGGTCTGGGATGGGTACCCTTCTGCTCAGTAAGATCCGGGAGGAGTACCCA c.480
G G T G S G M G T L L L S K I R E E Y P p.160
. . . . . . g.1387
GACAGGATCATAAACACATTCAGCATCCTGCCCTCGCCCAAGGTGTCGGACACCGTGGTG c.540
D R I I N T F S I L P S P K V S D T V V p.180
. . . . . . g.1447
GAGCCCTACAACGCCACCCTCTCAGTCCACCAGCTCATAGAAAACGCAGATGAGACCTTT c.600
E P Y N A T L S V H Q L I E N A D E T F p.200
. . . . . . g.1507
TGCATAGATAACGAAGCTCTGTATGACATATGTTCCAAGACCCTAAAACTGCCCACACCC c.660
C I D N E A L Y D I C S K T L K L P T P p.220
. . . . . . g.1567
ACCTATGGTGACCTGAACCACCTGGTGTCTGCTACCATGAGTGGGGTCACCACGTGCCTG 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.1627
CGCTTCCCGGGCCAGCTGAATGCTGACCTGCGGAAGCTGGCCGTGAACATGGTCCCGTTT 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.1687
CCCCGGCTGCATTTCTTCATGCCCGGCTTTGCCCCACTGACCAGCCGGGGCAGCCAGCAG 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.1747
TACCGGGCCTTGACTGTGGCTGAGCTTACCCAGCAGATGTTTGATGCTAAGAACATGATG c.900
Y R A L T V A E L T Q Q M F D A K N M M p.300
. . . . . . g.1807
GCTGCCTGTGACCCCCGTCACGGCCGCTACCTAACGGCGGCTGCCATTTTCAGGGGTCGC c.960
A A C D P R H G R Y L T A A A I F R G R p.320
. . . . . . g.1867
ATGCCCATGAGGGAGGTGGATGAACAAATGTTCAACATTCAAGATAAGAACAGCAGTTAC c.1020
M P M R E V D E Q M F N I Q D K N S S Y p.340
. . . . . . g.1927
TTTGCTGACTGGCTCCCCAACAACGTAAAAACAGCCGTCTGTGACATCCCACCCCGGGGG c.1080
F A D W L P N N V K T A V C D I P P R G p.360
. . . . . . g.1987
CTAAAAATGTCAGCCACCTTCATTGGGAATAATACGGCCATCCAGGAACTCTTCAAGCGT c.1140
L K M S A T F I G N N T A I Q E L F K R p.380
. . . . . . g.2047
GTCTCAGAGCAGTTTACAGCAATGTTCAGGCGCAAGGCCTTCCTCCACTGGTACACGGGC c.1200
V S E Q F T A M F R R K A F L H W Y T G p.400
. . . . . . g.2107
GAGGGCATGGATGAGATGGAATTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCT 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.2167
GAATATCAGCAATATCAGGATGCCACGGCCGAGGAGGAGGAGGATGAGGAGTATGCCGAG c.1320
E Y Q Q Y Q D A T A E E E E D E E Y A E p.440
. g.2182
GAGGAGGTGGCCTAG c.1335
E E V A X p.444
. . . . . . g.2242
aactctccttttctaggtaaaggggggaagcagtgtggattctttactgtgttctgacag c.*60
. . . . . . g.2302
ccatgtgtcactatacgcttgttaatttgtgtcttcacatctcctgctgcgttttaaagc c.*120
. . . . g.2351
atttttatagtatgcggttttgactaataaagtattctcacagcatctg c.*169
(downstream sequence)
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