(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_006765.3 in the TUSC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012141.2, covering TUSC3 transcript NM_006765.3.
(upstream sequence)
. . . . g.4910
agattgaggtcccagggccaaaggaccactcctctcctcagcgc c.-301
. . . . . . g.4970
tggtccgggaaaggcaagctccgggcgggagcgcacgccgcgcccccgaagcctggctcc c.-241
. . . . . . g.5030
ctcgccacgcccacttcctgcccccatcccgcgcctttccaggtcttctcccggtgaacc c.-181
. . . . . . g.5090
ggatgctctgtcagtctcctcctctgcgtcctcggccgcggcccgggtccctcgcaaagc c.-121
. . . . . . g.5150
cgctgccatcccggagggcccagccagcgggctcccggaggctggccgggcaggcgtggt c.-61
. . . . . . g.5210
gcgcggtaggagctgggcgcgcacggctaccgcgcgtggaggagacactgccctgccgcg c.-1
. . . . . . g.5270
ATGGGGGCCCGGGGCGCTCCTTCACGCCGTAGGCAAGCGGGGCGGCGGCTGCGGTACCTG c.60
M G A R G A P S R R R Q A G R R L R Y L p.20
. . . . . . g.5330
CCCACCGGGAGCTTTCCCTTCCTTCTCCTGCTGCTGCTGCTCTGCATCCAGCTCGGGGGA c.120
P T G S F P F L L L L L L L C I Q L G G p.40
. | 02 . . . . g.87901
GGACAGAAGAAAAAGGAG | AATCTTTTAGCTGAAAAAGTAGAGCAGCTGATGGAATGGAGT c.180
G Q K K K E | N L L A E K V E Q L M E W S p.60
. . . . . . g.87961
TCCAGACGCTCAATCTTCCGAATGAATGGTGATAAATTCCGAAAATTTATAAAGGCACCA c.240
S R R S I F R M N G D K F R K F I K A P p.80
. . . . . . g.88021
CCTCGAAACTATTCCATGATTGTTATGTTCACTGCTCTTCAGCCTCAGCGGCAGTGTTCT c.300
P R N Y S M I V M F T A L Q P Q R Q C S p.100
| 03 . . . . . g.115528
GTGTGCAG | GCAAGCTAATGAAGAATATCAAATACTGGCGAACTCCTGGCGCTATTCATCT c.360
V C R | Q A N E E Y Q I L A N S W R Y S S p.120
. . . . . . g.115588
GCTTTTTGTAACAAGCTCTTCTTCAGTATGGTGGACTATGATGAGGGGACAGACGTTTTT c.420
A F C N K L F F S M V D Y D E G T D V F p.140
| 04 . . . . . . g.124340
CAGCAG | CTCAACATGAACTCTGCTCCTACATTCATGCATTTTCCTCCAAAAGGCAGACCT c.480
Q Q | L N M N S A P T F M H F P P K G R P p.160
. . . . . . g.124400
AAGAGAGCTGATACTTTTGACCTCCAAAGAATTGGATTTGCAGCTGAGCAACTAGCAAAG c.540
K R A D T F D L Q R I G F A A E Q L A K p.180
. . | 05. . . . g.126968
TGGATTGCTGACAGAACGGATGTTCAT | ATTCGGGTTTTCAGACCACCCAACTACTCTGGT c.600
W I A D R T D V H | I R V F R P P N Y S G p.200
. . . . . . g.127028
ACCATTGCTTTGGCCCTGTTAGTGTCGCTTGTTGGAGGTTTGCTTTATTTGAGAAGGAAC c.660
T I A L A L L V S L V G G L L Y L R R N p.220
. . . . | 06 . g.138538
AACTTGGAGTTCATCTATAACAAGACTGGTTGGGCCATGGTGTCTCTG | TGTATAGTCTTT c.720
N L E F I Y N K T G W A M V S L | C I V F p.240
. . . . . . g.138598
GCTATGACTTCTGGCCAGATGTGGAACCATATCCGTGGACCTCCATATGCTCATAAGAAC c.780
A M T S G Q M W N H I R G P P Y A H K N p.260
. | 07 . . . . g.195487
CCACACAATGGACAAGTG | AGCTACATTCATGGGAGCAGCCAGGCTCAGTTTGTGGCAGAA c.840
P H N G Q V | S Y I H G S S Q A Q F V A E p.280
. . | 08 . . . . g.208355
TCACACATTATTCTGGTACTGA | ATGCCGCTATCACCATGGGGATGGTTCTTCTAAATGAA c.900
S H I I L V L N | A A I T M G M V L L N E p.300
. . . | 09. . . g.213177
GCAGCAACTTCGAAAGGCGATGTTGGAAAAAGACGGA | TAATTTGCCTAGTGGGATTGGGC c.960
A A T S K G D V G K R R I | I C L V G L G p.320
. . . . . . g.213237
CTGGTGGTCTTCTTCTTCAGTTTTCTACTTTCAATATTTCGTTCCAAGTACCACGGCTAT c.1020
L V V F F F S F L L S I F R S K Y H G Y p.340
| 10 . g.222622
CCTTATAG | TGATCTGGACTTTGAGTGA c.1047
P Y S | D L D F E X p.348
. . . . | 11 . . g.229029
gaagatgtgatttggaccatggcacttaaaaactctataacctcag | ctttttaattaaat c.*60
. . . . . . g.229089
gaagccaagtgggatttgcataaagtgaatgtttaccatgaagataaactgttcctgact c.*120
. . . . . . g.229149
ttatactattttgaattcattcatttcattgtgatcagctagcttattcttgtgtacttt c.*180
. . . . . . g.229209
ttttaaactgtgggttttcctagtaaatttaatttacagaaatcaatggtagcatttagt c.*240
. . . . . . g.229269
aatctacaaaggaaatatcaaagtgtttttcaagcctgttatattcagtgtgtgccacag c.*300
. . . . . . g.229329
gattgaaataaatgacaatgtaattatgaattcatgttttagagctgtttactcattagt c.*360
. . . . . . g.229389
aaaggaccgcaatgttagtaaagaaaacctatgaaatgtatgttaaagattcttagtatt c.*420
. . . . . . g.229449
gtacagggataaagcaaatgcatgaaaatatgtcatgtactgaaaattaaacttacttca c.*480
. . . . . . g.229509
gtttcagttataaaggacgtgcactgttacgaatagtgttttgttattaattataactag c.*540
. . . . . . g.229569
ataaaggtatataggacagggaactggatgaatggtacctacaatttggatgcctaacca c.*600
. . . . . . g.229629
aggactagagctccttcttgagatctaaatctaaagtaaatgtgcattaaagcagtgtgc c.*660
. . . . . . g.229689
ttcaaaggcatcagacgatgaaagcaacataccacaactaggagttatttctcaaactta c.*720
. . . . . . g.229749
aatgtcctctgggaatccagacttaaaaataagagcaaacttaacacactatccattttc c.*780
. . . . . . g.229809
gagcaaacctaacccactatatccattttgctcatgtgttttatgcaaccagctttccat c.*840
. . . . . . g.229869
caaatcctcaatctttgaatccaggtaaaaggttaattatcctaggattagtgaatgatt c.*900
. . . . . . g.229929
caatgaagctttcttgaaaacaaacataggagtgtaatgtactattatgtttgtatcctg c.*960
. . . . . . g.229989
ttttagtttataaagcactttcacatacattatggtatttcttcctcacaataaccttgt c.*1020
. . . . . . g.230049
aaattagtcaggaaatgtaaattttatctgactcatagaactaatggaagctgaaagcca c.*1080
. . . . . . g.230109
aaaataaagtttataaccaggccttcaaactctcaaacatggatttttatattctgtgga c.*1140
. . . . . . g.230169
gttatccaaattaattagggtttaggaaagcagttcttcttgagtcagttcaataagtgt c.*1200
. . . . . . g.230229
ttgctttttgtttttaaggtttgttatctaattttcattaagatttgagtaacagaccat c.*1260
. . . . . . g.230289
ggagaattgttttcattgggagttccagctatatagcctcaaacaagaaacgggtgtaca c.*1320
. . . . . . g.230349
accattgagtttacttacttaaatctgtgaatttcaatgaagaatgggaatataaaggcc c.*1380
. . . . . . g.230409
tactggggcatgtttatcaagttatatcccagggcaatgtgtatgctagcaggatgaatg c.*1440
. . . . . . g.230469
ctatcttttcaaaacataatattcagtgaaaattacgtaataattgtaagtttataatca c.*1500
. . . . . . g.230529
tactcccaaatctgttactaaaaataacataaattctcctagttcatgtacttagatgaa c.*1560
. . . . . . g.230589
taaatttagttttggaatgacgtttatggaaaagcaatagatgaacttaatcatttgatc c.*1620
. . . . . . g.230649
actgcctatcactaggcagaacttgacctgtaattcttaatccattgtagattttttaca c.*1680
. . . . . . g.230709
ttttactcaaaacttcatacatagagactctcaggtcaaattttacaagtattaaacatt c.*1740
. . . . . . g.230769
tgttaattataatcacttttgtttgtatccttaaatctcagaattatcttgcagttaata c.*1800
. . . . . . g.230829
tgcagctgattaaatgatattacaaattatctctaatctcactgtaaatcttttaatcat c.*1860
. . . . . . g.230889
atcaaagtcaggtcatcctcagacactataactaagatagataaggagtactttactata c.*1920
. . . . . . g.230949
ccatattagtaaaggttttctagctcttattttctaatttcctctgagcatttaaaatta c.*1980
. . . . . . g.231009
catccagtgataaaaacaatatttttttttcagaatttcatgctttaaaaagctgtggct c.*2040
. . . . . . g.231069
tctctatagacaactgttacattagggaagtgattctagagcaaaatatactgcctcaac c.*2100
. . . . . . g.231129
ataagtcgttactgactggaaaatgctataggcagaattgcaaagagtggctcaaacata c.*2160
. . . . . . g.231189
tagtttgcttgcagaatgtaacgtgcaaaatcacatacatgcgatgtatttacctttgct c.*2220
. . . . . . g.231249
agacaatgagaattgaataattgatttgtacctggtatgttatatcctccagtgtcactt c.*2280
. . . . . . g.231309
tttaaccagattcactgtgcgttccaaactgtcataaaaattgattatatgtttaacaat c.*2340
. . . . . . g.231369
tgtttttctactacagtggagagaaaaatcccaattataaaattccacctaaaggagttt c.*2400
. . . . . . g.231429
cattttgtaataacatctgattaataacttgttgcattttgcttaacatactgttcctgg c.*2460
. . . g.231462
cattagatattcacatgagtaagcccagtagca c.*2493
(downstream sequence)
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