(used for variant description)
(last modified September 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_022463.4 in the NXN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering NXN transcript NM_022463.4.
(upstream sequence)
. . g.5020
cgccgacgccgccgcctcct c.-61
. . . . . . g.5080
cccgccgcgcggaccgtggagcggggtcgcagccgcctgcccgccctgcggtgggccagg c.-1
. . . . . . g.5140
ATGTCGGGCTTCCTGGAGGAGCTGCTCGGCGAGAAGCTGGTGACGGGCGGCGGCGAGGAG c.60
M S G F L E E L L G E K L V T G G G E E p.20
. . . . . . g.5200
GTGGACGTGCACTCGCTGGGCGCCCGCGGCATCTCGCTGCTGGGTCTCTACTTCGGCTGC c.120
V D V H S L G A R G I S L L G L Y F G C p.40
. . . . . . g.5260
AGCCTCAGCGCCCCCTGCGCGCAGCTCAGCGCCAGCCTGGCCGCCTTCTACGGGCGCCTG c.180
S L S A P C A Q L S A S L A A F Y G R L p.60
. . . . . . g.5320
CGGGGGGACGCGGCGGCCGGGCCGGGGCCGGGAGCGGGGGCCGGGGCGGCGGCGGAGCCC c.240
R G D A A A G P G P G A G A G A A A E P p.80
. . . . . . g.5380
GAGCCGCGGCGGCGCCTGGAGATCGTCTTCGTGTCCTCGGACCAGGACCAGCGGCAGTGG c.300
E P R R R L E I V F V S S D Q D Q R Q W p.100
. . . . . . g.5440
CAGGACTTCGTGCGGGACATGCCGTGGCTGGCGCTGCCCTACAAGGAGAAGCACAGGAAG c.360
Q D F V R D M P W L A L P Y K E K H R K p.120
| 02 . . . . . . g.158740
| CTCAAACTTTGGAACAAATACCGAATTTCCAACATTCCATCACTAATATTCCTCGACGCC c.420
| L K L W N K Y R I S N I P S L I F L D A p.140
. . . . . | 03 g.160995
ACCACTGGGAAGGTTGTGTGCAGGAACGGGCTGCTGGTGATCCGAGATGACCCAGAAG | GT c.480
T T G K V V C R N G L L V I R D D P E G | p.160
. . . . . . g.161055
CTGGAGTTCCCCTGGGGACCGAAACCCTTCAGGGAAGTCATTGCAGGGCCCTTGCTTAGA c.540
L E F P W G P K P F R E V I A G P L L R p.180
. . . . . . g.161115
AACAATGGGCAGTCTCTGGAGAGCAGCAGCCTGGAGGGGTCTCACGTGGGCGTCTATTTC c.600
N N G Q S L E S S S L E G S H V G V Y F p.200
. | 04 . . . . . g.162349
TCCGCACATTGG | TGTCCGCCCTGCCGAAGCCTCACCCGGGTCCTGGTGGAATCCTACCGG c.660
S A H W | C P P C R S L T R V L V E S Y R p.220
. . . . . | 05 . g.165220
AAGATCAAGGAGGCAGGCCAGAACTTCGAGATCATCTTCGTTAGTGCAGACAG | GTCGGAG c.720
K I K E A G Q N F E I I F V S A D R | S E p.240
. . . . . . g.165280
GAGTCCTTCAAACAGTACTTCAGTGAGATGCCCTGGCTCGCCGTCCCCTACACGGATGAG c.780
E S F K Q Y F S E M P W L A V P Y T D E p.260
. . . . | 06 . . g.179531
GCCCGGCGGTCGCGCCTCAACCGGCTGTACGGAATCCAAG | GCATCCCCACGCTCATCATG c.840
A R R S R L N R L Y G I Q G | I P T L I M p.280
. . . . . . g.179591
CTGGACCCGCAGGGCGAGGTGATCACGCGGCAGGGGCGGGTGGAGGTGCTGAACGACGAG c.900
L D P Q G E V I T R Q G R V E V L N D E p.300
. . . . . . g.179651
GACTGCCGGGAGTTCCCCTGGCACCCCAAGCCCGTGCTGGAGCTCTCCGACTCCAACGCC c.960
D C R E F P W H P K P V L E L S D S N A p.320
. . . . | 07 . . g.180972
GCGCAGCTTAACGAGGGCCCCTGCCTCGTCCTTTTTGTAG | ATTCTGAGGATGACGGAGAG c.1020
A Q L N E G P C L V L F V D | S E D D G E p.340
. . . . . . g.181032
TCCGAGGCGGCCAAGCAGCTGATTCAGCCGATAGCTGAGAAAATCATTGCCAAGTACAAA c.1080
S E A A K Q L I Q P I A E K I I A K Y K p.360
. . . . | 08 . . g.183642
GCCAAAGAGGAGGAGGCACCCCTTCTGTTCTTCGTAGCCGGGGAG | GATGACATGACTGAC c.1140
A K E E E A P L L F F V A G E | D D M T D p.380
. . . . . . g.183702
TCCCTGCGAGATTACACCAACCTGCCTGAGGCTGCCCCTTTGCTCACCATCCTGGACATG c.1200
S L R D Y T N L P E A A P L L T I L D M p.400
. . . . . . g.183762
TCAGCCCGGGCCAAGTACGTGATGGACGTGGAGGAGATCACCCCCGCCATCGTGGAGGCC c.1260
S A R A K Y V M D V E E I T P A I V E A p.420
. . . . g.183810
TTTGTGAATGACTTCCTAGCAGAGAAGCTCAAACCGGAGCCCATCTAG c.1308
F V N D F L A E K L K P E P I X p.435
. . . . . . g.183870
cgtggctccggcctcctgagacgttatttaaaactcagccttctcctcctccccctcctt c.*60
. . . . . . g.183930
ccttccgcccttggacttacccagcgtgccccgaatcccaccacccaagtgtccagcctc c.*120
. . . . . . g.183990
tctgtggtgccttgtttctgcagtaaactcctcagccagcaccctggggtgtggaatcag c.*180
. . . . . . g.184050
cagcggcagagtccaccgtgtttggagactctgtttgggagcacgggatggccgggggcc c.*240
. . . . . . g.184110
cggccagagcggggctgcatggctttcgcaaagtcactagcttttggtgaaggatctgcc c.*300
. . . . . . g.184170
agggtgtcctgggcagagtgagcgtggagggccggtgggtcccgctcgggctctgactct c.*360
. . . . . . g.184230
gacgtcggcacacacggccccggacggccagaggggaaccgccgggtgacacctgcgtgg c.*420
. . . . . . g.184290
aggctgagctgagaaagggcctccgcttagagctgcgggtgaggacgtccttttctaagc c.*480
. . . . . . g.184350
aacacagtcttcctcggtctgagagaaaagcagcccactcttgtgttctcaggcagggga c.*540
. . . . . . g.184410
tctccaaatgcaaaaggaagcttgtagaggttttttgggtgagaagaaaaatgtagctaa c.*600
. . . . . . g.184470
ggtaatggttcatatcatacaaacagctcccacgatcctgaaattctgttaacgaatcct c.*660
. . . . . . g.184530
tctctttggacatcttcccaagaaacttagccctgagtcctaggaggagcacctctgcac c.*720
. . . . . . g.184590
cagcacggacctctcgctccacccagctctgtgcccaaggcccctgatctctgctgaggt c.*780
. . . . . . g.184650
gcccacacccacgttcgatcacccctgccattcccttttattttcttttttttgagatgg c.*840
. . . . . . g.184710
agtcttgctctgtcgcccaggctggagtgcagtggcaccatcttggctcacttcaacctc c.*900
. . . . . . g.184770
cgcccccaaggttcaagtgattctcctgcctcagcctcccgagtagctgggattacaggc c.*960
. . . . . . g.184830
acccgccaccgtacctggctaatttttgtatttttagtagagatggggtttcaccatgtt c.*1020
. . . . . . g.184890
ggccaggctggtctcgaactcctgacctcaggtgatccacccgcctcggcctcccaaagt c.*1080
. . . . . . g.184950
gctgggattacaggcgtgagccgccgtgcccggcccccttttcttttcaaagcagaacta c.*1140
. . . . . . g.185010
caaagatgagaaattaccagaagcctcgccttttcctaagcaccagcggaaggagctgtg c.*1200
. . . . . . g.185070
ccccgggatggagtgagggtggagggcgcgtcagccacgggtgggccttgtgtcgccttg c.*1260
. . . . . . g.185130
tatcggcccaggtaggttgttggcctcttacttgggctgacctgacccccgaaagagaaa c.*1320
. . . . . . g.185190
cagacaactctgttctcaggattggggatggacggcttcggccaagcgttttagcctcat c.*1380
. . . . . . g.185250
tcactcaggccccactcagcactctgccagccaagaccattgatttggaaaatccggtcc c.*1440
. . . . . . g.185310
ccacccgctaatgagctgttgacactgttgttccttgctgaattggattgttgacttgta c.*1500
. . . . . . g.185370
gttcagaggcgtacaactagttggcgattagacttgttatgtgatgttaccagcctgaaa c.*1560
. . . . . . g.185430
tgcgatcaccccgtaggaaataaagcaggcatctctggacctcatccaccctgggcctct c.*1620
. g.185446
gctgtccttgatcaca c.*1636
(downstream sequence)
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