(used for variant description)
(last modified June 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_014669.4 in the NUP93 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052904.1, covering NUP93 transcript NM_014669.4.
(upstream sequence)
g.5001
g c.-121
. . . . . . g.5061
ggagcggccagccttggccaatcaggaagcgggggagagcggcgcgagaagcggcggccg c.-61
. . . . . | 02 . g.23143
cgtcctcaagccggcacctgagcggcggagacggctgtagcacaag | gatctgcatctcca c.-1
. . . . . . g.23203
ATGGATACTGAGGGGTTTGGTGAGCTCCTTCAGCAAGCTGAACAGCTTGCTGCTGAGACT c.60
M D T E G F G E L L Q Q A E Q L A A E T p.20
. . . . . . g.23263
GAGGGCATCTCAGAGCTTCCCCATGTGGAACGGAACTTACAGGAGATCCAGCAGGCGGGA c.120
E G I S E L P H V E R N L Q E I Q Q A G p.40
. . . . . | 03 g.33434
GAGCGCCTGCGTTCCCGTACCCTAACACGCACGTCCCAGGAGACGGCAGATGTCAAGGC | G c.180
E R L R S R T L T R T S Q E T A D V K A | p.60
. . . . . . g.33494
TCAGTTCTCCTCGGGTCTCGGGGACTTGACATATCCCACATCTCCCAGCGATTGGAGAGT c.240
S V L L G S R G L D I S H I S Q R L E S p.80
. . . . . | 04. g.73374
CTGAGTGCAGCCACCACCTTTGAGCCTCTTGAGCCTGTGAAGGACACTGACATTCAG | GGC c.300
L S A A T T F E P L E P V K D T D I Q | G p.100
. . . . . . g.73434
TTCCTGAAGAATGAGAAGGACAATGCCCTGCTGTCTGCCATCGAAGAGTCCCGGAAGAGG c.360
F L K N E K D N A L L S A I E E S R K R p.120
| 05 . . . . . . g.80459
| ACCTTCGGCATGGCTGAGGAGTACCATCGGGAGTCAATGTTGGTTGAGTGGGAGCAAGTG c.420
| T F G M A E E Y H R E S M L V E W E Q V p.140
. . . . . . g.80519
AAACAGCGAATTCTGCACACACTGCTGGCATCAGGAGAAGACGCCCTTGACTTTACTCAA c.480
K Q R I L H T L L A S G E D A L D F T Q p.160
| 06 . . . . . g.93610
GAAAGCGAG | CCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAAC c.540
E S E | P S Y I S D V G P P G R S S L D N p.180
. . | 07 . . . . g.96435
ATCGAGATGGCCTATGCGCGGCAA | ATTTATATCTATAATGAGAAAATTGTAAATGGACAC c.600
I E M A Y A R Q | I Y I Y N E K I V N G H p.200
. . . . . | 08 . g.98608
CTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAG | AGCATT c.660
L Q P N L V D L C A S V A E L D D K | S I p.220
. . . . . . g.98668
TCCGACATGTGGACCATGGTAAAACAAATGACAGACGTGTTGTTGACACCGGCAACGGAT c.720
S D M W T M V K Q M T D V L L T P A T D p.240
. . . . . . g.98728
GCCCTGAAGAACCGCAGCAGCGTGGAAGTGCGCATGGAGTTTGTCAGGCAGGCCTTGGCG c.780
A L K N R S S V E V R M E F V R Q A L A p.260
. | 09 . . . . . g.103918
TACCTTGAGCAGAG | TTATAAGAATTACACCCTTGTGACTGTCTTTGGAAATTTGCATCAG c.840
Y L E Q S | Y K N Y T L V T V F G N L H Q p.280
. . . . . . g.103978
GCCCAGCTGGGCGGGGTGCCTGGGACTTACCAATTGGTTCGAAGTTTCCTGAACATTAAA c.900
A Q L G G V P G T Y Q L V R S F L N I K p.300
. . | 10. . . . g.105456
CTGCCAGCTCCCTTGCCTGGACTACAG | GATGGAGAGGTGGAAGGCCATCCTGTGTGGGCG c.960
L P A P L P G L Q | D G E V E G H P V W A p.320
. . . . . . g.105516
CTAATTTACTACTGCATGCGCTGTGGAGACCTGCTTGCCGCTTCACAGGTAGTTAATCGA c.1020
L I Y Y C M R C G D L L A A S Q V V N R p.340
. . . . . . g.105576
GCCCAGCACCAGCTGGGAGAGTTTAAAACCTGGTTCCAGGAGTACATGAACAGCAAGGAC c.1080
A Q H Q L G E F K T W F Q E Y M N S K D p.360
| 11 . . . . . . g.106792
AGAAG | ATTGTCCCCAGCTACGGAAAACAAGCTCCGGCTGCATTACCGTAGGGCCCTCAGG c.1140
R R | L S P A T E N K L R L H Y R R A L R p.380
. . . . . . g.106852
AACAATACAGATCCCTACAAGCGGGCCGTGTACTGTATCATTGGCAGATGTGACGTCACC c.1200
N N T D P Y K R A V Y C I I G R C D V T p.400
. . . . . | 12 . g.107199
GACAACCAGAGTGAAGTGGCGGACAAAACTGAGGATTACCTGTGGCTGAAG | TTGAACCAA c.1260
D N Q S E V A D K T E D Y L W L K | L N Q p.420
. . . . . . g.107259
GTGTGTTTTGACGACGATGGCACCAGCTCCCCACAAGACAGGCTCACTCTCTCACAGTTC c.1320
V C F D D D G T S S P Q D R L T L S Q F p.440
. . | 13 . . . . g.108145
CAGAAGCAGTTGTTGGAAGACTATG | GCGAGTCCCACTTTACGGTGAACCAGCAACCCTTC c.1380
Q K Q L L E D Y G | E S H F T V N Q Q P F p.460
. . . . . . g.108205
CTCTACTTCCAAGTCCTGTTCCTGACAGCGCAGTTTGAAGCAGCAGTTGCCTTTCTTTTC c.1440
L Y F Q V L F L T A Q F E A A V A F L F p.480
. . . . . . g.108265
CGCATGGAGCGGCTGCGCTGCCATGCTGTCCATGTAGCACTGGTGCTGTTTGAGCTGAAG c.1500
R M E R L R C H A V H V A L V L F E L K p.500
. . . | 14. . . g.109046
CTGCTTTTAAAGTCCTCTGGACAGAGTGCTCAGCTCC | TCAGCCACGAGCCTGGTGACCCT c.1560
L L L K S S G Q S A Q L L | S H E P G D P p.520
. . . . . . g.109106
CCTTGCTTGCGGCGGCTGAACTTCGTGCGGCTCCTCATGCTGTACACCCGGAAGTTTGAG c.1620
P C L R R L N F V R L L M L Y T R K F E p.540
. . . . | 15 . . g.109281
TCCACGGACCCAAGGGAGGCCCTCCAGTACTTCTATTTCCTCAG | GGATGAGAAAGATAGT c.1680
S T D P R E A L Q Y F Y F L R | D E K D S p.560
. . . . . | 16. g.109632
CAAGGAGAAAACATGTTTCTGCGCTGTGTGAGTGAGCTTGTGATTGAAAGCCGAGAG | TTC c.1740
Q G E N M F L R C V S E L V I E S R E | F p.580
. . . . | 17 . . g.111514
GATATGATTCTTGGGAAACTAGAGAATGACGGAAGTAGAAAG | CCTGGAGTCATAGATAAG c.1800
D M I L G K L E N D G S R K | P G V I D K p.600
. . . . . . g.111574
TTTACTAGTGACACAAAGCCTATTATCAACAAAGTTGCTTCTGTGGCAGAAAATAAAGGA c.1860
F T S D T K P I I N K V A S V A E N K G p.620
. . . | 18 . . g.112524
CTGTTTGAAGAGGCAGCAAAGCTGTATGACCTTGCCAAG | AATGCTGACAAGGTACTGGAG c.1920
L F E E A A K L Y D L A K | N A D K V L E p.640
. . . . . . g.112584
CTGATGAACAAACTGCTGAGCCCTGTCGTCCCCCAGATCAGTGCCCCGCAATCCAACAAG c.1980
L M N K L L S P V V P Q I S A P Q S N K p.660
. . . | 19 . . g.113869
GAGAGGCTGAAGAACATGGCACTCTCCATTGCCGAACG | GTATAGGGCTCAAGGAATAAGC c.2040
E R L K N M A L S I A E R | Y R A Q G I S p.680
. . . . . . g.113929
GCAAATAAATTTGTGGACTCCACGTTCTATCTTCTTTTGGACTTGATCACCTTTTTTGAC c.2100
A N K F V D S T F Y L L L D L I T F F D p.700
. . . | 20 . . . g.114440
GAGTATCATAGTGGTCATATTGATAGAGCTTTTGAT | ATCATTGAGCGCTTGAAGCTGGTG c.2160
E Y H S G H I D R A F D | I I E R L K L V p.720
. . . . . . g.114500
CCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAA c.2220
P L N Q E S V E E R V A A F R N F S D E p.740
| 21 . . . . . . g.116660
| ATCAGGCACAACCTCTCAGAAGTGCTTCTTGCCACCATGAACATCTTGTTCACACAGTTT c.2280
| I R H N L S E V L L A T M N I L F T Q F p.760
. . . . . . g.116720
AAGAGGCTCAAGGGGACAAGTCCATCCTCGTCATCCAGGCCCCAGCGAGTCATCGAGGAC c.2340
K R L K G T S P S S S S R P Q R V I E D p.780
| 22 . . . . . g.119445
CGCGACTCT | CAACTCCGAAGTCAAGCCCGCACTCTGATTACCTTTGCTGGAATGATACCA c.2400
R D S | Q L R S Q A R T L I T F A G M I P p.800
. . . . . . g.119505
TACCGAACGTCTGGGGACACCAATGCGAGGCTGGTGCAGATGGAGGTCCTCATGAATTAA c.2460
Y R T S G D T N A R L V Q M E V L M N X p.819
. . . . . . g.119565
gtgccatgctttgtgggagtctgggtcggcacactgtcagtacatcaggcacatgggccc c.*60
. . . . . . g.119625
actaggctggggtttctggttttgtttctgttgtgttttgttttggtttctgtattatgt c.*120
. . . . . . g.119685
atttttgtcaacgccaataaatttctttgatttgtatttcttttcaacattcttttattt c.*180
. . . . . . g.119745
tctttttttttttctttgaaattttgtttacatttttatttgtgtaatgggaaataccgt c.*240
. . . . . . g.119805
cactagctcttgggccagggaatgagaggctatgtagatattcattatttggttaaattg c.*300
. . . . g.119846
accttaattaattaaaaatctacccaaaatgagccaggaaa c.*341
(downstream sequence)
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