(used for variant description)
(last modified October 27, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002532.4 in the NUP88 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering NUP88 transcript NM_002532.4.
(upstream sequence)
. . g.5029
attggccgaaacagtgagtggacggccgc c.-61
. . . . . . g.5089
ggattggctgtgctcagcggcgggctgagcaactggagtgaggggagcagttgggccaag c.-1
. . . . . . g.5149
ATGGCGGCCGCCGAGGGACCGGTGGGCGACGGCGAGCTGTGGCAGACCTGGCTTCCTAAC c.60
M A A A E G P V G D G E L W Q T W L P N p.20
. . . . . . g.5209
CACGTCGTGTTCTTGCGGCTCCGGGAGGGACTGAAAAACCAGAGTCCAACCGAAGCTGAG c.120
H V V F L R L R E G L K N Q S P T E A E p.40
. . . . . . g.5269
AAACCAGCTTCTTCGTCGTTGCCTTCGTCGCCGCCGCCGCAGTTGCTGACGAGAAACGTG c.180
K P A S S S L P S S P P P Q L L T R N V p.60
. . . . . . g.5329
GTCTTTGGCCTCGGCGGAGAGCTTTTCCTGTGGGACGGAGAAGACAGCTCCTTCTTAGTC c.240
V F G L G G E L F L W D G E D S S F L V p.80
. . . . . | 02. g.8060
GTTCGCCTTCGGGGCCCCAGCGGCGGCGGCGAAGAGCCCGCCCTGTCCCAGTACCAG | AGA c.300
V R L R G P S G G G E E P A L S Q Y Q | R p.100
. . . . . . g.8120
TTGCTTTGCATAAATCCACCCCTGTTTGAAATCTATCAAGTCTTGTTAAGCCCAACACAA c.360
L L C I N P P L F E I Y Q V L L S P T Q p.120
. . . . . . g.8180
CATCATGTAGCACTTATAGGAATAAAAGGACTTATGGTATTAGAATTACCTAAAAGATGG c.420
H H V A L I G I K G L M V L E L P K R W p.140
. . . . | 03. . g.10618
GGGAAGAATTCTGAATTTGAAGGTGGAAAATCAACAGTGAATTGTAG | TACCACTCCAGTT c.480
G K N S E F E G G K S T V N C S | T T P V p.160
. . . . . . g.10678
GCGGAGAGATTTTTCACCAGTTCCACCTCTCTGACTCTAAAGCATGCTGCATGGTATCCA c.540
A E R F F T S S T S L T L K H A A W Y P p.180
. . . . . | 04 . g.13957
AGTGAAATCCTGGATCCCCACGTAGTGCTGTTAACATCAGACAACGTAATCAG | AATTTAC c.600
S E I L D P H V V L L T S D N V I R | I Y p.200
. . . . . . g.14017
TCACTACGTGAGCCGCAGACACCCACTAACGTGATAATACTTTCAGAAGCCGAAGAGGAA c.660
S L R E P Q T P T N V I I L S E A E E E p.220
. . | 05 . . . . g.15870
AGTCTAGTACTCAATAAAGG | AAGGGCGTATACCGCATCTCTAGGAGAGACAGCAGTTGCA c.720
S L V L N K G | R A Y T A S L G E T A V A p.240
. . . . . . g.15930
TTTGACTTTGGGCCATTGGCAGCAGTCCCAAAGACTCTATTTGGACAAAACGGCAAAGAT c.780
F D F G P L A A V P K T L F G Q N G K D p.260
. . . . . . g.15990
GAAGTAGTGGCATACCCACTGTACATCTTATATGAAAATGGAGAGACTTTCCTGACATAC c.840
E V V A Y P L Y I L Y E N G E T F L T Y p.280
. | 06. . . . . g.19539
ATCAGTCTGTTACACAG | CCCTGGAAATATTGGAAAGCTGTTGGGTCCATTGCCCATGCAT c.900
I S L L H S | P G N I G K L L G P L P M H p.300
. . . . . . g.19599
CCTGCGGCTGAAGATAACTATGGTTATGATGCGTGTGCTGTACTCTGCTTACCCTGTGTC c.960
P A A E D N Y G Y D A C A V L C L P C V p.320
. . . . . . g.19659
CCCAATATCTTAGTGATCGCTACTGAATCAGGAATGCTGTATCACTGTGTCGTGCTAGAA c.1020
P N I L V I A T E S G M L Y H C V V L E p.340
. . | 07 . . . . g.20529
GGGGAAGAAGAAGATGACCACACG | TCAGAAAAGTCCTGGGATTCCAGGATTGACCTCATT c.1080
G E E E D D H T | S E K S W D S R I D L I p.360
. . . . . . g.20589
CCTTCTCTGTATGTGTTTGAATGTGTTGAGTTGGAGCTTGCTTTGAAACTGGCATCTGGA c.1140
P S L Y V F E C V E L E L A L K L A S G p.380
. . . . . | 08 . g.25097
GAGGATGACCCTTTTGATTCTGACTTTTCTTGTCCAGTCAAACTTCATAGAG | ATCCCAAG c.1200
E D D P F D S D F S C P V K L H R D | P K p.400
. . . . . . g.25157
TGTCCTTCAAGATATCACTGTACTCATGAAGCTGGTGTACATAGTGTTGGGCTAACTTGG c.1260
C P S R Y H C T H E A G V H S V G L T W p.420
. . . | 09 . . . g.29787
ATTCATAAACTTCACAAATTTCTTGGATCAG | ATGAAGAAGATAAGGATAGTTTACAGGAA c.1320
I H K L H K F L G S D | E E D K D S L Q E p.440
. . . . . . g.29847
CTCTCTACAGAACAGAAATGCTTTGTTGAACACATCCTTTGTACGAAGCCATTGCCCTGC c.1380
L S T E Q K C F V E H I L C T K P L P C p.460
| 10 . . . . . . g.33135
AG | GCAGCCAGCTCCAATTCGAGGATTTTGGATTGTACCTGACATTCTGGGACCCACGATG c.1440
R | Q P A P I R G F W I V P D I L G P T M p.480
. . . . | 11 . . g.35795
ATCTGCATCACCAGTACCTATGAATGCCTCATATGGCCGTTATT | AAGTACAGTCCATCCA c.1500
I C I T S T Y E C L I W P L L | S T V H P p.500
. . . . . . g.35855
GCGTCTCCTCCCCTGCTTTGTACTCGAGAAGATGTTGAAGTGGCAGAGTCTCCCCTCCGT c.1560
A S P P L L C T R E D V E V A E S P L R p.520
. . . . . . g.35915
GTTCTGGCTGAAACCCCAGATTCCTTTGAAAAGCATATTAGAAGCATTTTGCAACGTAGT c.1620
V L A E T P D S F E K H I R S I L Q R S p.540
. . | 12 . . . . g.36872
GTTGCCAATCCAGCATTTTTGAA | AGCTTCTGAAAAGGACATAGCCCCTCCTCCTGAAGAA c.1680
V A N P A F L K | A S E K D I A P P P E E p.560
. . . . . . g.36932
TGCCTTCAGCTCCTCAGCAGAGCCACCCAGGTGTTCAGAGAGCAGTACATTCTCAAACAG c.1740
C L Q L L S R A T Q V F R E Q Y I L K Q p.580
. . | 13 . . . g.37100
GACTTGGCAAAGGAGGAGATTCAGCGGAG | GGTCAAATTATTATGTGACCAAAAAAAGAAA c.1800
D L A K E E I Q R R | V K L L C D Q K K K p.600
. . . | 14 . . . g.37298
CAACTAGAAGATCTCAGTTATTGTCGAGAAGAGAG | GAAAAGTCTGCGGGAAATGGCTGAG c.1860
Q L E D L S Y C R E E R | K S L R E M A E p.620
. . . . . | 15 . g.37633
CGTTTAGCTGACAAATATGAGGAAGCTAAAGAAAAACAAGAGGATATCATGAACAG | GATG c.1920
R L A D K Y E E A K E K Q E D I M N R | M p.640
. . . . . . g.37693
AAAAAACTACTTCACAGTTTTCACTCTGAGCTCCCAGTTCTCTCTGATAGTGAGCGAGAC c.1980
K K L L H S F H S E L P V L S D S E R D p.660
. . . . . . g.37753
ATGAAGAAAGAATTACAGCTGATACCTGATCAACTTCGACATTTGGGCAATGCCATCAAA c.2040
M K K E L Q L I P D Q L R H L G N A I K p.680
| 16 . . . . . . g.37970
CAG | GTTACTATGAAAAAGGATTATCAACAGCAAAAGATGGAGAAGGTGTTGAGTCTTCCA c.2100
Q | V T M K K D Y Q Q Q K M E K V L S L P p.700
. . . . . . g.38030
AAACCCACCATTATTCTCAGTGCCTACCAGCGAAAGTGCATTCAGTCCATCCTGAAAGAG c.2160
K P T I I L S A Y Q R K C I Q S I L K E p.720
| 17 . . . . . . g.38528
GA | GGGTGAACATATAAGGGAAATGGTGAAGCAAATCAATGATATCCGCAATCATGTAAAC c.2220
E | G E H I R E M V K Q I N D I R N H V N p.740
g.38534
TTCTGA c.2226
F X p.741
. . . . . . g.38594
caccaccaggagctgactcacacctgaactgaacaccattgaaggcttaaacccatattg c.*60
. . . . . . g.38654
taaaacaggtagaattatctaatttataaaaaggtgttttgatgacctttggtgtggttc c.*120
. . . . . . g.38714
atctttttaaatatgttgttttataataattgagtaaatgcttttatttaaaatttggaa c.*180
(downstream sequence)
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