(used for variant description)
(last modified October 28, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_003320.4 in the TUB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering TUB transcript NM_003320.4.
(upstream sequence)
g.5001
c c.-241
. . . . . . g.5061
ttgaggattcagtctggtcctgaagggtttggggggagactgcgaccagaagatgtttcc c.-181
. . . . . . g.5121
atgtcctaattaatgggtgatggtggttgttagtctgactgttgccacggtgatgaaggg c.-121
. . . . . . g.5181
agacatccaagtgctggtttcagtactgaggcgaatacagggaatttcaacaggctccag c.-61
. . . . . . g.5241
gtcttactatgcagcctgaagtgggaccatcccttaaacccactccatcctgtggccacg c.-1
. . . . . . g.5301
ATGGGGGCCAGGACACCTTTGCCTTCTTTCTGGGTTTCTTTCTTTGCCGAGACAGGGATT c.60
M G A R T P L P S F W V S F F A E T G I p.20
. . . . . . g.5361
TTGTTCCCAGGAGGCACTCCCTGGCCCATGGGATCTCAGCATTCAAAGCAGCACAGGAAA c.120
L F P G G T P W P M G S Q H S K Q H R K p.40
. . . | 02 . . . g.6037
CCTGGGCCCCTGAAACGGGGCCACCGAAGAGATCG | GAGAACAACCAGGAGGAAGTACTGG c.180
P G P L K R G H R R D R | R T T R R K Y W p.60
. . | 03 . . . . g.56014
AAGGAAGGAAGGGAGATCGCTCG | TGTCTTAGATGATGAGGGCAGAAACCTGAGGCAGCAG c.240
K E G R E I A R | V L D D E G R N L R Q Q p.80
. | 04 . . . . . g.56481
AAGCTTGATCGGCAG | CGGGCCCTGCTGGAGCAGAAGCAGAAGAAGAAGCGCCAGGAGCCC c.300
K L D R Q | R A L L E Q K Q K K K R Q E P p.100
. . . . . . g.56541
CTGATGGTGCAGGCCAATGCAGATGGGCGGCCCCGGAGCCGGCGGGCCCGGCAGTCAGAG c.360
L M V Q A N A D G R P R S R R A R Q S E p.120
. . . . . | 05 g.60415
GAACAAGCCCCCCTGGTGGAGTCCTACCTCAGCAGCAGTGGCAGCACCAGCTACCAAG | TT c.420
E Q A P L V E S Y L S S S G S T S Y Q V | p.140
. . . . . . g.60475
CAAGAGGCCGACTCACTCGCCAGTGTGCAGCTGGGAGCCACGCGCCCAACAGCACCAGCT c.480
Q E A D S L A S V Q L G A T R P T A P A p.160
. . . . . . g.60535
TCAGCCAAGAGAACCAAGGCGGCAGCTACAGCAGGGGGCCAGGGTGGCGCCGCTAGGAAG c.540
S A K R T K A A A T A G G Q G G A A R K p.180
. . | 06 . . . . g.61903
GAGAAGAAGGGAAAGCACAAAG | GCACCAGCGGGCCAGCAGCACTGGCAGAAGACAAGTCT c.600
E K K G K H K G | T S G P A A L A E D K S p.200
. . . . . . g.61963
GAGGCCCAAGGCCCAGTGCAGATTCTGACTGTGGGCCAGTCAGACCACGCCCAGGACGCA c.660
E A Q G P V Q I L T V G Q S D H A Q D A p.220
. . . . . . g.62023
GGGGAGACGGCAGCTGGTGGGGGCGAACGGCCCAGCGGGCAGGATCTCCGTGCCACGATG c.720
G E T A A G G G E R P S G Q D L R A T M p.240
. | 07 . . . . . g.63102
CAGAGGAAGG | GCATCTCCAGCAGCATGAGCTTTGACGAGGATGAGGAGGATGAGGAGGAG c.780
Q R K G | I S S S M S F D E D E E D E E E p.260
. . . . . . g.63162
AATAGCTCCAGCTCCTCCCAGCTAAATAGTAACACCCGCCCCAGCTCTGCTACTAGCAGG c.840
N S S S S S Q L N S N T R P S S A T S R p.280
. | 08 . . . . . g.63643
AAGTCCGTCAGG | GAGGCAGCCTCAGCCCCTAGCCCAACAGCTCCAGAGCAACCAGTGGAC c.900
K S V R | E A A S A P S P T A P E Q P V D p.300
. . . . . . g.63703
GTTGAGGTCCAGGATCTTGAGGAGTTTGCACTGAGGCCGGCCCCCCAGGGTATCACCATC c.960
V E V Q D L E E F A L R P A P Q G I T I p.320
. . . . . . g.63763
AAATGCCGCATCACTCGGGACAAGAAAGGGATGGACCGGGGCATGTACCCCACCTACTTT c.1020
K C R I T R D K K G M D R G M Y P T Y F p.340
. . . | 09 . . . g.64111
CTGCACCTGGACCGTGAGGATGGGAAGAAG | GTGTTCCTCCTGGCGGGAAGGAAGAGAAAG c.1080
L H L D R E D G K K | V F L L A G R K R K p.360
. . . . . . g.64171
AAGAGTAAAACTTCCAATTACCTCATCTCTGTGGACCCAACAGACTTGTCTCGAGGAGGG c.1140
K S K T S N Y L I S V D P T D L S R G G p.380
. . | 10 . . . . g.65162
GACAGCTATATCGGGAAACTGCG | GTCCAACTTGATGGGCACCAAGTTCACTGTTTATGAC c.1200
D S Y I G K L R | S N L M G T K F T V Y D p.400
. . . . . . g.65222
AATGGAGTCAACCCTCAGAAGGCCTCATCCTCCACTTTGGAAAGTGGAACCTTACGTCAG c.1260
N G V N P Q K A S S S T L E S G T L R Q p.420
. . | 11 . . . . g.66909
GAGCTGGCAGCTGTGTGCTAC | GAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATG c.1320
E L A A V C Y | E T N V L G F K G P R K M p.440
. . . . . . g.66969
AGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAAC c.1380
S V I V P G M N M V H E R V S I R P R N p.460
| 12 . . . . . . g.67253
| GAGCATGAGACACTGCTAGCACGCTGGCAGAATAAGAACACGGAGAGTATCATCGAGCTG c.1440
| E H E T L L A R W Q N K N T E S I I E L p.480
. . . . . . g.67313
CAAAACAAGACACCTGTCTGGAATGATGACACACAGTCCTATGTACTCAACTTCCATGGG c.1500
Q N K T P V W N D D T Q S Y V L N F H G p.500
. . . . . | 13 . g.67861
CGCGTCACACAGGCCTCCGTGAAGAACTTCCAGATCATCCATGGCAATGACC | CGGACTAC c.1560
R V T Q A S V K N F Q I I H G N D P | D Y p.520
. . . . . . g.67921
ATCGTGATGCAGTTTGGCCGGGTAGCAGAGGATGTGTTCACCATGGATTACAACTACCCG c.1620
I V M Q F G R V A E D V F T M D Y N Y P p.540
. . . . . . g.67981
CTGTGTGCACTGCAGGCCTTTGCCATTGCCCTGTCCAGCTTCGACAGCAAGCTGGCGTGC c.1680
L C A L Q A F A I A L S S F D S K L A C p.560
g.67987
GAGTAG c.1686
E X p.561
. . . . . . g.68047
aggcctcttcgtgccctttggggttgcccagcctggagcggagcttgcctgcctgcctgt c.*60
. . . . . . g.68107
ggagacagccctgcctatcctctgtatataggccttccgccagatgaagctttggccctc c.*120
. . . . . . g.68167
agtgggctccctggcccagccagccaggaactggctcctttgcctctgctactgaggcag c.*180
. . . . . . g.68227
gggagtagtggagagcgggtgggtgggtgtgaagggatgagaataattctttccatgcca c.*240
. . . . . . g.68287
cgagatcaacacacactcccacccttggggtagtagtgtgttgtagtcgtacttaccaag c.*300
. . . . . . g.68347
ctgagcaacctcttcagctgggaaggccgcaagaggcatagagggagaggaagcacactg c.*360
. . . . . . g.68407
cagggctgctgtggcccagtcgtccgctcagccaaggagtcagatggcaatgggtactcc c.*420
. . . . . . g.68467
agcaggtaggggcacagtgaatgtgtgtatgtatgaaggccacatcaactttatgtagca c.*480
. . . . . . g.68527
aagggcttggtggccaagcctggcccttaaacaactgcagaaagcccttcaacttcagaa c.*540
. . . . . . g.68587
ggcctcactcaagcctgagagaagttgggagggtggtggggacaggtaagtggcaggacc c.*600
. . . . . . g.68647
ctgtcaggattgcaggtgcctggcttgctgtggctatgggaatcagctggtggctaggtt c.*660
. . . . . . g.68707
tctagcgcatttgatttctccaggtttgctgtgtctcacagaggcagtaggaacccagct c.*720
. . . . . . g.68767
ctcagggctgtcttggtggatgggccctgcaagacacaggctcagcatgcagaagtgcat c.*780
. . . . . . g.68827
gaacagggtccctggatcagggttgttctgggagtcctgtcagcttccccaggagctctc c.*840
. . . . . . g.68887
tgctgagcagcccagcacaacccccaggaaacacaaatggggtccaggtcaccagcctga c.*900
. . . . . . g.68947
ctgcacacagctaggcatgcctgggaatcctgctgccagagaaccattcccaagccatgg c.*960
. . . . . . g.69007
catgctccttgaagaatctctcctctctctctctctctggaaagacccaactttctcact c.*1020
. . . . . . g.69067
gctgtcagccaagtcatggttggtaaccatgtaggttcttgggagggaatgggacagggt c.*1080
. . . . . . g.69127
gaataaagcagggaatattttagaaccacaagagatcagcagtggcaggacccttaggaa c.*1140
. . . . . . g.69187
tctagtacaaccttgttgctttaggtgagtcacactcagaaaatggggcttgccctgggt c.*1200
. . . . . . g.69247
cacctagctggttaatggcagcattcagaacttcaagttctcttgatttctttgttccca c.*1260
. . . . . . g.69307
ctgtcccccaagaaactagtatctctggcctcctgggggcccattctgcatgccctcccc c.*1320
. . . . . . g.69367
acttcccccgattcagagacttagaagcatcagagttgataaattagattgaaaccattc c.*1380
. . . . . . g.69427
cagtaggaaatcaggcagttccctgttgaaagttgtctggctttttgcacgtgagtatga c.*1440
. . . . . . g.69487
tccaggattggcctgtgtctggcccctccgcgagggctactcagcagtaagcaggcctta c.*1500
. . . . . . g.69547
gtacggctgctgcacacttctcggtctaggtgggagagagtgcataaaggttctggggct c.*1560
. . . . . . g.69607
gggcctgagcctaactccctccactaccgctatttctccttggatggcaccatccaccct c.*1620
. . . . . . g.69667
gcaggcttgggaactgtaagctcaagcttttgctcatttgtcatttaccctggtggaggc c.*1680
. . . . . . g.69727
ttcttgcccagatagagatctgaaattggtgggaagcaagcaggggtcgtaccttgcttt c.*1740
. . . . . . g.69787
agagtagatgtttggaaaagctaagtagaaattttttaaaatagaagttgtattttaaac c.*1800
. . . . . . g.69847
gtgttaggctttataggtgaaggacttgttttgacttaagtagaagtaatatgctctcat c.*1860
. . . . . . g.69907
ttctttgtaatctagattttcctatgttgaatgcttaaagcaaggcatacctgtcctagc c.*1920
. . . . . . g.69967
aggatctgcccacacctcggccgtacatctctgtgagagaccccctccaacgattagctt c.*1980
. . . . . . g.70027
ttgcaacatggtccagtttctagagggcactagaactttgtgccagcgctggcgagatac c.*2040
. . . . . . g.70087
catggtgccatcctcctttctatagttccagtttagcccttccctgcctttaaggagaag c.*2100
. . . . . . g.70147
agatcttcatggtgacatttgagatgatggaaactagatcgtctctaatgttaggtcaag c.*2160
. . . . . . g.70207
ctatttctctggatctatgattttaagatagaacaggctggttctgagttctggtgagac c.*2220
. . . . . . g.70267
ggagaccccggtggcagtggaaaaatcagaagcacaaaggaaaactcttggcctctgctt c.*2280
. . . . . . g.70327
tctcctgtagcacaaagagggagttggctggatcttttggtggagtcaggaaagacaggc c.*2340
. . . . . . g.70387
tgagctttctagcctaagtgtggagaaggatagcctcagccacaaaactctgtcaggcat c.*2400
. . . . . . g.70447
tgaatgacaagcatcagtagctgagtgcactcctggtgatcctggttttccttgaccact c.*2460
. . . . . . g.70507
ggccctggggccatgggtgcatggactcgtaaagctgctagggcccctagaaaccacctg c.*2520
. . . . . . g.70567
ggttcagcctctcccacaataagagttcttgcccttcataccctctacctggatggatgg c.*2580
. . . . . . g.70627
tctttgggcagggaattaatgacagaatgagcagtccctaatggtattgggcagttggga c.*2640
. . . . . . g.70687
gtgagtttaggcagcttctctgtaaccgcttctggggccacaccccaaaactctacaccc c.*2700
. . . . . . g.70747
tctgccccagaacaattctgcagagtggtgaagttcacttccccaactcttctccaagtc c.*2760
. . . . . . g.70807
tagctttcctttccttctggctccaaggtgctctgtgtccgtctgtgtatgtgtgtgtct c.*2820
. . . . . . g.70867
gtgcgtctgtgtgtttatttggggaaaagggcaatcagcaatcaactgaggtttcttaat c.*2880
. . . . . . g.70927
tgtgattatattcctgagaatgaatgagtaggaaaggaataaggatgttgttatgatcgc c.*2940
. . . . . . g.70987
ctgtggattttgtccattcatctcatgctctctgaacagaaggtatacctgggaagatac c.*3000
. . . . . . g.71047
cagctttttctctcagggttctgagtcagaggacaccatccaagaatgttgttagctttt c.*3060
. . . . . . g.71107
cagttcccgctctgcattgcctgaaaaaactggtatgttgcacgtatgcttttggttgaa c.*3120
. . . . . . g.71167
attgaacatactctagtgaatgtgccttaaaaatcaagacactagttcagaggaagcaca c.*3180
. . . . . . g.71227
taatgtccagatctatggcgaacacaggtgttggaagccaggactgtgataatcagaagc c.*3240
. . . . . . g.71287
tataagagaactttcggagcctgcctccttcagtgacaagtagggcacaaaattctagaa c.*3300
. . . . . . g.71347
gcagaaggttgtttttttttttttttctccattctgaaaatagcaggacatttacctctt c.*3360
. . . . . . g.71407
aaataaacttagcatttagaggtaattctaaatttaacaagtgacagggttggtttcaaa c.*3420
. . . . . . g.71467
gaaaaaggtccatgctttgcttacaatggagtctgcagtgaggggagatgctgggatagc c.*3480
. . . . . . g.71527
catttccatggctctgttatgcaagcacaaatttcatctcctagatggacttcctggttt c.*3540
. . . . . . g.71587
tctcttactgcagtaacactggccttcccttctctaattccttaccccagctgcggcatc c.*3600
. . . . . . g.71647
cctgtgttaactcaggatgccaagtggccctcagattacacttctccagatagctgaatg c.*3660
. . . . . . g.71707
agtctgctttcactgtgactgggacctgaatgacctgcagtcagggcccagagttgggac c.*3720
. . . . . . g.71767
tctatactaccctgggctctggtctgtaggtttgtagtagccaccggtaataagccaagg c.*3780
. . . . . . g.71827
gctaggctcttgtttgagtttatggccacctggaattttcagtcatctcatgatacaggc c.*3840
. . . . . . g.71887
gggaggggcagaacagatagattacgacaggtttggtttttaaattttccaaccaagtgg c.*3900
. . . . . . g.71947
aaaggcaagttggtcttatagaaagcactactgcacttagtagctatgtgattttgagca c.*3960
. . . . . . g.72007
aaccacataatctctctaggtccattttcctaaccacaagataaagatgttacattgtca c.*4020
. . . . . . g.72067
aagcttgccgtaggatttggggtgaatgaaaattattccttgctttcatcactaccttta c.*4080
. . . . . . g.72127
tagctctcatcactacctttatagctcatcactgtgcctttttttctttcctaagaaaga c.*4140
. . . . . . g.72187
catcacatccctctcctctcctcctctgtgctcctgtccctccctccccctagcaaggtc c.*4200
. . . . . . g.72247
caggcaaagctggagatgaggctgagatccagagtttcctagaacgcaacttaggatggc c.*4260
. . . . . . g.72307
taggaaagggaagcctgactgctcggtcaggagggtgcagtatctcttgctgggaacaca c.*4320
. . . . . . g.72367
gccagttttcacaatgcctagactgtgtatgtctatttgcacaagattgtcttttcctat c.*4380
. . . . . . g.72427
tttggagtggtcagacattttatttttgttcaagattatctggcgttttagacaaatttg c.*4440
. . . . g.72475
caaaactgtgcttttattgactttttgaataaactttggtattctgga c.*4488
(downstream sequence)
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