(used for mutation description)
(last modified June 12, 2013)
This file was created to facilitate the description of sequence variants in the TNPO3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023428.1, covering TNPO3 transcript NM_012470.3.
(upstream sequence)
. . . . g.5043
gtttgtagtgtaccaggcggaagtgtgccaaaggtatcggtgc c.-361
. . . . . . g.5103
tgtcgcttccggtccgggtaaacgaaccttaggtacactggtgtgtggcctcccaagata c.-301
. . . . . . g.5163
ggcttctgagggcaagtcagcgactgaagacgggagcgccagaatctgtggactcaagag c.-241
. . . . . . g.5223
tctagaatcaagtggaaaaaccggaaaaaaggccaggaacctgaatacgacctaatagct c.-181
. . . . . . g.5283
gtttccgagggggcaacttccacggagagccttctgccctggtaacggccaaagaggagg c.-121
. . . . . . g.5343
agatggcgccagtcagggagcggccgtggcccagacagtgaggaagcgcgaaggcggagc c.-61
. . . . . . g.5403
aaccgaggaatcctccggagaagaatcagagccgtcgctaccgccactaccgccaccacc c.-1
. . . . . . g.5463
ATGGAAGGAGCAAAGCCGACATTGCAGCTCGTGTACCAGGCAGTGCAGGCGCTTTACCAC c.60
M E G A K P T L Q L V Y Q A V Q A L Y H p.20
. . . . . . g.5523
GACCCAGATCCCAGCGGAAAGGAGCGCGCCTCTTTTTGGCTTGGGGAGCTGCAGCGTTCG c.120
D P D P S G K E R A S F W L G E L Q R S p.40
| 02 . . . . . . g.42076
| GTTCATGCATGGGAGATCTCAGACCAGTTGTTACAGATCCGGCAGGATGTGGAGTCATGC c.180
| V H A W E I S D Q L L Q I R Q D V E S C p.60
. . . . . . g.42136
TATTTTGCTGCACAGACCATGAAAATGAAGATTCAGACCTCATTTTATGAGCTCCCCACA c.240
Y F A A Q T M K M K I Q T S F Y E L P T p.80
. . . . . . g.42196
GACTCTCATGCCTCTTTACGGGACTCATTGCTAACCCATATCCAGAACTTGAAAGACTTG c.300
D S H A S L R D S L L T H I Q N L K D L p.100
. . | 03 . . . . g.43156
TCACCTGTTATTGTAACGCAG | CTGGCTTTAGCAATAGCAGATCTTGCCCTACAGATGCCT c.360
S P V I V T Q | L A L A I A D L A L Q M P p.120
. . . | 04 . . . g.45063
TCCTGGAAGGGATGTGTGCAAACACTGGTGGAAAA | ATACAGCAATGATGTGACTTCTTTG c.420
S W K G C V Q T L V E K | Y S N D V T S L p.140
. . . . . . g.45123
CCTTTTTTGCTGGAGATCCTTACAGTGTTACCTGAAGAAGTACATAGTCGTTCCTTACGA c.480
P F L L E I L T V L P E E V H S R S L R p.160
. . . . . . g.45183
ATTGGAGCTAATCGGCGCACAGAAATTATAGAAGATTTGGCCTTCTACTCTAGTACAGTA c.540
I G A N R R T E I I E D L A F Y S S T V p.180
. | 05 . . . . . g.55062
GTATCTCTATTG | ATGACCTGTGTAGAAAAAGCAGGAACAGATGAGAAAATGCTTATGAAG c.600
V S L L | M T C V E K A G T D E K M L M K p.200
. . . . . . g.55122
GTTTTTCGCTGTTTGGGAAGTTGGTTTAACTTGGGAGTTTTGGACAGTAACTTCATGGCT c.660
V F R C L G S W F N L G V L D S N F M A p.220
. . . | 06 . . . g.58963
AACAATAAATTACTAGCACTCCTTTTTGAGGTTTTG | CAACAGGATAAGACCTCGTCTAAC c.720
N N K L L A L L F E V L | Q Q D K T S S N p.240
. . . . . . g.59023
CTACATGAAGCTGCTTCGGACTGTGTATGCTCAGCTCTCTATGCCATTGAGAATGTGGAG c.780
L H E A A S D C V C S A L Y A I E N V E p.260
. . . . . . g.59083
ACTAACTTGCCATTAGCCATGCAACTTTTTCAGGGAGTGCTGACATTGGAGACTGCCTAT c.840
T N L P L A M Q L F Q G V L T L E T A Y p.280
. . . | 07 . . . g.59634
CATATGGCCGTGGCACGTGAAGATTTAGACAA | AGTTCTGAATTACTGCCGTATTTTCACT c.900
H M A V A R E D L D K | V L N Y C R I F T p.300
. . . . . . g.59694
GAACTATGTGAAACTTTTCTTGAAAAAATTGTTTGTACTCCAGGCCAAGGTCTTGGGGAC c.960
E L C E T F L E K I V C T P G Q G L G D p.320
. . . . . | 08 . g.62647
CTTCGAACTCTGGAGCTGCTGCTTATCTGTGCAGGCCATCCTCAATATGAG | GTAGTAGAA c.1020
L R T L E L L L I C A G H P Q Y E | V V E p.340
. . . . . . g.62707
ATTTCATTTAACTTTTGGTACCGACTGGGGGAACATTTGTACAAAACTAACGATGAAGTT c.1080
I S F N F W Y R L G E H L Y K T N D E V p.360
. . . . . . g.62767
ATTCATGGCATCTTCAAAGCTTACATTCAGAGGCTGCTTCACGCCTTGGCTCGACACTGC c.1140
I H G I F K A Y I Q R L L H A L A R H C p.380
. | 09 . . . . g.66301
CAGCTGGAACCAGACCAT | GAGGGGGTTCCTGAGGAGACTGATGACTTTGGGGAGTTTCGC c.1200
Q L E P D H | E G V P E E T D D F G E F R p.400
. . . . . . g.66361
ATGAGGGTATCAGACCTGGTAAAGGACTTGATTTTCTTGATAGGGTCTATGGAGTGTTTT c.1260
M R V S D L V K D L I F L I G S M E C F p.420
| 10 . . . . . . g.68137
GCTCAG | TTATATTCTACTCTGAAAGAAGGCAACCCACCCTGGGAGGTGACAGAAGCGGTT c.1320
A Q | L Y S T L K E G N P P W E V T E A V p.440
. . . | 11 . . g.70095
CTCTTTATCATGGCTGCTATAGCAAAGAGTGTTGATCC | GGAAAACAATCCAACACTTGTG c.1380
L F I M A A I A K S V D P | E N N P T L V p.460
. . . . . . g.70155
GAAGTCCTAGAAGGAGTTGTCCGCCTCCCGGAGACCGTACATACGGCTGTGCGATACACC c.1440
E V L E G V V R L P E T V H T A V R Y T p.480
. . . . . | 12 g.73255
AGCATTGAATTGGTTGGAGAGATGAGTGAAGTCGTTGATCGAAATCCTCAGTTCCTTG | AC c.1500
S I E L V G E M S E V V D R N P Q F L D | p.500
. . . . . . g.73315
CCTGTGTTGGGCTATTTGATGAAAGGCCTGTGTGAAAAGCCCCTGGCTTCTGCTGCAGCC c.1560
P V L G Y L M K G L C E K P L A S A A A p.520
. . . . . . g.73375
AAAGCCATTCATAACATTTGCTCTGTCTGCCGAGATCACATGGCTCAGCACTTTAATGGA c.1620
K A I H N I C S V C R D H M A Q H F N G p.540
. . . . . . g.73435
CTCCTGGAGATTGCCCGCTCCCTCGATTCCTTCCTGTTGTCTCCAGAAGCTGCTGTGGGC c.1680
L L E I A R S L D S F L L S P E A A V G p.560
. | 13 . . . . . g.75964
TTGCTAAAAG | GGACAGCACTTGTCCTAGCCCGATTACCTTTGGATAAGATTACCGAATGT c.1740
L L K G | T A L V L A R L P L D K I T E C p.580
. . . . | 14 . . g.77867
CTTAGTGAACTATGTTCTGTTCAGGTTATGGCATTGAAAAAG | CTGTTGTCTCAAGAGCCC c.1800
L S E L C S V Q V M A L K K | L L S Q E P p.600
. . . . . | 15 g.80143
AGCAATGGCATATCCTCAGATCCCACAGTGTTCTTAGATCGCCTTGCAGTGATATTTAG | G c.1860
S N G I S S D P T V F L D R L A V I F R | p.620
. . . . . . g.80203
CATACCAATCCCATTGTGGAAAATGGACAGACTCATCCGTGTCAGAAAGTCATACAGGAA c.1920
H T N P I V E N G Q T H P C Q K V I Q E p.640
| 16 . . . . . . g.81110
| ATATGGCCAGTTTTATCCGAGACTCTAAATAAGCACCGAGCTGATAATCGGATTGTAGAG c.1980
| I W P V L S E T L N K H R A D N R I V E p.660
. . . . . . g.81170
CGTTGTTGCAGGTGCCTGCGCTTTGCTGTTCGCTGTGTAGGCAAAGGATCTGCAGCACTG c.2040
R C C R C L R F A V R C V G K G S A A L p.680
. . | 17 . . . . g.84277
CTGCAGCCACTAGTCACACAG | ATGGTGAATGTGTACCACGTACATCAGCATTCCTGCTTC c.2100
L Q P L V T Q | M V N V Y H V H Q H S C F p.700
. . . . . . g.84337
CTGTACCTTGGCAGTATCCTTGTGGATGAATATGGCATGGAAGAAGGCTGTCGGCAGGGA c.2160
L Y L G S I L V D E Y G M E E G C R Q G p.720
. | 18 . . . . g.85253
CTGCTAGACATGCTCCAG | GCACTGTGCATCCCCACCTTTCAGCTCCTAGAACAGCAGAAT c.2220
L L D M L Q | A L C I P T F Q L L E Q Q N p.740
. . . . . | 19 . g.87598
GGTCTCCAGAATCACCCTGACACTGTAGATGACCTGTTCCGGCTAGCCACCAG | GTTTATT c.2280
G L Q N H P D T V D D L F R L A T R | F I p.760
. . . . . . g.87658
CAGCGTAGCCCTGTCACCTTGCTGCGGAGCCAAGTGGTCATCCCTATCTTACAGTGGGCC c.2340
Q R S P V T L L R S Q V V I P I L Q W A p.780
. . . . . . g.87718
ATTGCCTCTACTACCCTGGACCACCGGGATGCCAATTGTAGTGTCATGAGGTTTCTACGA c.2400
I A S T T L D H R D A N C S V M R F L R p.800
. . . | 20 . . . g.89888
GACCTCATTCATACAGGGGTAGCCAATGAT | CATGAAGAAGACTTTGAATTACGGAAAGAA c.2460
D L I H T G V A N D | H E E D F E L R K E p.820
. . . . . . g.89948
CTGATTGGACAGGTGATGAACCAGCTTGGACAGCAGCTTGTCAGCCAGCTGCTGCACACC c.2520
L I G Q V M N Q L G Q Q L V S Q L L H T p.840
. . . . . . g.90008
TGCTGCTTTTGCCTCCCCCCCTATACCCTACCAGATGTGGCTGAAGTGCTCTGGGAGATC c.2580
C C F C L P P Y T L P D V A E V L W E I p.860
. | 21 . . . . g.92823
ATGCAGGTTGACAGACCG | ACTTTTTGTCGATGGTTAGAAAATTCCTTAAAAGGTTTGCCA c.2640
M Q V D R P | T F C R W L E N S L K G L P p.880
. . . . . . g.92883
AAGGAAACAACCGTGGGAGCCGTCACAGTGACACACAAACAACTTACAGACTTCCACAAG c.2700
K E T T V G A V T V T H K Q L T D F H K p.900
. | 22 . . . . . g.102907
CAAGTCACTAG | TGCTGAGGAATGTAAACAAGTTTGCTGGGCCTTGCGAGACTTCACCAGG c.2760
Q V T S | A E E C K Q V C W A L R D F T R p.920
. g.102919
TTGTTTCGATAG | c.2773
L F R X p.923
. . . | 23 . . . g.104817
ctcacactcctgcactgtgcctgtcacccag | gaatgtcttttttaattagaagacaggaa c.*60
. . . . . . g.104877
gaaaacaaaaaccagactgtgtcccacaatcagaaacctccgttgtggcagaggggcctt c.*120
. . . . . . g.104937
caccgccaccagggtgtcccgccagacagggagagactccagccttctgaggccatcctg c.*180
. . . . . . g.104997
aggagttcctgtttgggggtgtgagggaaaatcagcgcggattttaaaaagatggctgtg c.*240
. . . . . . g.105057
gcctgcccggcgtggtgggaggggagctggtttcctggtgaactttctaaaaggaaaaat c.*300
. . . . . . g.105117
aattttaagtaaagaaaaaagaaaaaaaaggaagactaaacagaaaccagaactgaaaca c.*360
. . . . . . g.105177
ttcacctggtagcaaatgacacatgcacgcacacacacatacacgcacaagcgccagtgc c.*420
. . . . . . g.105237
gcacgtgtacacagaaaaacaaaaggacaagctttctgtgaaacaaaatatttacttagg c.*480
. . . . . . g.105297
gataatgtggggattcacatgaattaaatagctgcaattggaagaagagggtcagggtca c.*540
. . . . . . g.105357
tttgttcaggttttctattgttttgtcctctctttcctctcctacccttccttctctttc c.*600
. . . . . . g.105417
tctctcccctccttttaaatgcaaatgagtagaaatttcttctaccttccccagctgttt c.*660
. . . . . . g.105477
cttcccacctttagagttgtttagacaaggaggagtaagcaaggaacttgttctgctttc c.*720
. . . . . . g.105537
tatcgtggtcacattggtgatgctcgggacctgccagggtcagaatttatggatatctga c.*780
. . . . . . g.105597
accctgaccccgttcattctctcagtccacttccaatccacatcagtttgttgtctgcct c.*840
. . . . . . g.105657
tggagagaagagccaaaactggggtgggcgggtgggtggggagtgcaggatataaatgtg c.*900
. . . . . . g.105717
taagtttttgttttttaaggtttttttcttagtgaattattcacccacagacatgagaga c.*960
. . . . . . g.105777
aaaaaagagggagggtgtgtggagaaaaaatgtttacagggctaacaagggatgatgtgt c.*1020
. . . . . . g.105837
catttagtatgttactaaaaagtgtggaaatgacttgattttaaggggagggtgaggccg c.*1080
. . . . . . g.105897
aagagggaagcccaaagcagatcttaatgtttcaaaggagtgcagcccttcacagccatc c.*1140
. . . . . . g.105957
agatatgagggcactgttctgtctggtgttgtagccatctcaagaacaaatcaacagcaa c.*1200
. . . g.105994
caaaagagaaagaataaatttttaaaatttaaccagt c.*1237
(downstream sequence)
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