(used for variant description)
(last modified September 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_144573.3 in the NEXN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016625.1, covering NEXN transcript NM_144573.3.
(upstream sequence)
. . . . . g.5057
aacagctgcagccggcgctgggcccgcctggaatgcgggaacaggctgcacaccagg c.-241
. . . . . . g.5117
acttttatggaaacttgctgctggagacggcggcggcggcggcggcagcggcagccagag c.-181
. . . . . . g.5177
gactcccagcggctggagcagaagtgttagcggccagagctcccagacccctacccacag c.-121
. . . . . . g.5237
ccaggcgggacgcgcacagtccctccacgcggaaagaagtaccttcgccggtcaccggct c.-61
. | 02. . . . . g.32592
cctgcagg | gtgcaaatatatacagagcttcataatcagcccaagaccacatagagcaaac c.-1
. . | 03. . . . g.34084
ATGAATGATATTTCCCAAAAGGCTGAG | ATTCTGCTTTCTTCATCTAAACCTGTCCCAAAA c.60
M N D I S Q K A E | I L L S S S K P V P K p.20
. . . . . . g.34144
ACCTATGTACCAAAACTTGGCAAGGGTGATGTAAAGGATAAGTTTGAAGCCATGCAGAGA c.120
T Y V P K L G K G D V K D K F E A M Q R p.40
. . . . . . g.34204
GCCAGGGAAGAAAGAAATCAAAGGAGATCTAGAGACGAAAAACAAAGAAGAAAAGAACAA c.180
A R E E R N Q R R S R D E K Q R R K E Q p.60
. . . | 04 . . g.34466
TATATTAGAGAGAGAGAATGGAACAGGAGAAAGCAGGAG | ATTAAAGAAATGCTTGCTTCT c.240
Y I R E R E W N R R K Q E | I K E M L A S p.80
. . . . . | 05 g.34612
GATGATGAGGAAGATGTATCTTCTAAAGTAGAAAAGGCTTATGTTCCAAAATTAACAG | GA c.300
D D E E D V S S K V E K A Y V P K L T G | p.100
. . . . . . g.34672
ACTGTGAAGGGTAGATTTGCTGAAATGGAGAAACAAAGACAAGAGGAACAAAGGAAGAGA c.360
T V K G R F A E M E K Q R Q E E Q R K R p.120
. . . . . . g.34732
ACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATATGTTAGAAAAGAGGAAAATACAG c.420
T E E E R K R R I E Q D M L E K R K I Q p.140
. . | 06. . . . g.41706
CGTGAATTAGCAAAAAGGGCTGAACAG | ATTGAGGACATAAACAATACGGGAACTGAATCA c.480
R E L A K R A E Q | I E D I N N T G T E S p.160
| 07 . . . . . g.42950
GCATCAGAG | GAAGGAGATGATTCACTACTTATAACTGTGGTACCTGTCAAATCATATAAA c.540
A S E | E G D D S L L I T V V P V K S Y K p.180
. . . . . . g.43010
ACATCTGGAAAAATGAAAAAGAATTTTGAGGATCTAGAAAAAGAACGTGAAGAGAAAGAA c.600
T S G K M K K N F E D L E K E R E E K E p.200
. . . . . . g.43070
AGGATCAAGTACGAGGAAGATAAAAGAATAAGATATGAAGAACAACGACCATCTCTCAAG c.660
R I K Y E E D K R I R Y E E Q R P S L K p.220
. . | 08. . . . g.43234
GAAGCAAAGTGTCTTTCATTAGTTATG | GATGATGAAATAGAAAGTGAAGCAAAAAAAGAA c.720
E A K C L S L V M | D D E I E S E A K K E p.240
. . . . . . g.43294
TCACTTTCTCCCGGAAAATTGAAACTAACTTTTGAAGAACTGGAGCGACAAAGACAAGAA c.780
S L S P G K L K L T F E E L E R Q R Q E p.260
. . . . . . g.43354
AACCGAAAGAAGCAAGCTGAAGAGGAAGCAAGAAAACGTTTAGAAGAAGAGAAGCGTGCT c.840
N R K K Q A E E E A R K R L E E E K R A p.280
. . | 09 . . . . g.45837
TTTGAAGAAGCAAGGCGGCAAATG | GTAAATGAAGATGAGGAAAACCAAGACACAGCAAAA c.900
F E E A R R Q M | V N E D E E N Q D T A K p.300
. . . . . . g.45897
ATTTTTAAAGGGTACCGCCCTGGTAAACTCAAACTCAGTTTTGAAGAAATGGAAAGGCAA c.960
I F K G Y R P G K L K L S F E E M E R Q p.320
. . . . . . g.45957
AGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGAAGCCAGAAGGAGAATAGAGGAAGAA c.1020
R R E D E K R K A E E E A R R R I E E E p.340
. . . | 10 . . . g.49794
AAGAAGGCGTTTGCTGAAGCAAGGAGAAATATG | GTAGTAGATGATGACTCCCCAGAGATG c.1080
K K A F A E A R R N M | V V D D D S P E M p.360
. . . . . . g.49854
TATAAGACAATCTCTCAAGAATTTCTTACACCGGGAAAACTGGAAATTAATTTTGAAGAA c.1140
Y K T I S Q E F L T P G K L E I N F E E p.380
. . . . . . g.49914
TTATTAAAACAAAAAATGGAAGAAGAAAAACGACGAACAGAGGAGGAACGGAAGCATAAG c.1200
L L K Q K M E E E K R R T E E E R K H K p.400
. . . . . | 11 . g.52317
CTAGAAATGGAGAAACAAGAATTTGAACAACTGAGACAGGAAATGGGAGAG | GAAGAGGAA c.1260
L E M E K Q E F E Q L R Q E M G E | E E E p.420
. . . . . . g.52377
GAAAATGAAACCTTTGGATTGAGCAGAGAATATGAAGAACTGATCAAATTAAAAAGGAGT c.1320
E N E T F G L S R E Y E E L I K L K R S p.440
. . . . . . g.52437
GGCTCTATTCAAGCTAAAAACCTAAAAAGCAAGTTTGAAAAAATTGGACAGTTGTCTGAA c.1380
G S I Q A K N L K S K F E K I G Q L S E p.460
. . . . . . g.52497
AAAGAAATACAGAAAAAAATAGAAGAAGAGCGAGCAAGAAGGAGAGCAATTGACCTTGAA c.1440
K E I Q K K I E E E R A R R R A I D L E p.480
. . . | 12 . . . g.58535
ATTAAAGAGCGAGAAGCTGAAAATTTTCATGAG | GAAGATGATGTTGATGTTAGGCCTGCA c.1500
I K E R E A E N F H E | E D D V D V R P A p.500
. . . . . . g.58595
AGAAAAAGCGAGGCTCCATTTACTCACAAAGTGAATATGAAAGCTAGATTTGAACAAATG c.1560
R K S E A P F T H K V N M K A R F E Q M p.520
. . . . . . g.58655
GCTAAGGCAAGAGAAGAAGAAGAACAAAGAAGAATTGAAGAACAAAAGTTACTACGCATG c.1620
A K A R E E E E Q R R I E E Q K L L R M p.540
. . . | 13 . . g.58967
CAGTTTGAACAAAGGGAAATTGATGCAGCACTACAAAAG | AAAAGAGAAGAGGAGGAGGAG c.1680
Q F E Q R E I D A A L Q K | K R E E E E E p.560
. . . . . . g.59027
GAAGAAGGTAGCATCATGAATGGCTCCACTGCTGAAGATGAAGAGCAAACCAGATCAGGA c.1740
E E G S I M N G S T A E D E E Q T R S G p.580
. . . . . . g.59087
GCTCCATGGTTCAAGAAGCCTCTTAAAAACACATCAGTTGTAGACAGTGAGCCAGTCAGA c.1800
A P W F K K P L K N T S V V D S E P V R p.600
. . . . . . g.59147
TTTACGGTTAAAGTAACAGGAGAACCCAAACCAGAAATTACATGGTGGTTTGAAGGAGAA c.1860
F T V K V T G E P K P E I T W W F E G E p.620
. . . . . . g.59207
ATACTGCAGGATGGAGAAGACTATCAATATATTGAAAGGGGAGAAACTTACTGCCTTTAC c.1920
I L Q D G E D Y Q Y I E R G E T Y C L Y p.640
. . . . . . g.59267
TTACCAGAAACTTTCCCAGAAGATGGAGGAGAGTATATGTGTAAAGCAGTCAACAATAAA c.1980
L P E T F P E D G G E Y M C K A V N N K p.660
. . . . g.59315
GGATCTGCAGCTAGTACCTGTATTCTTACCATTGAAAGTAAGAATTAA c.2028
G S A A S T C I L T I E S K N X p.675
. . . . . . g.59375
tcactctttttatcttttattctattaatttttttttccttaaaatcacttttcttcttc c.*60
. . . . . . g.59435
tcttttttagctgatgactactagctcccctcccctctccctggaactttctctttcact c.*120
. . . . . . g.59495
ccaactttcttactacatccatcttttctgtggcggggccaaaaaaggaaaccaggagtg c.*180
. . . . . . g.59555
ccactatgctgacttcttattccttttcataacagtcttcaaagcacagctcatctaaag c.*240
. . . . . . g.59615
aatgcctacttcttttccaaataagcatcagatttatcgcctattatgcagtaacagtca c.*300
. . . . . . g.59675
ataaaatgtacttatgggggggaattactcaattattctatcagaacctattataaagac c.*360
. . . . . . g.59735
tgtatttcccatagacgtttacagcaactatgtttaaaaaacaaaaacaaaaaaaaaaca c.*420
. . . . . . g.59795
cacaaacctaagtagaatacattattttgcatgaaggaatgtcatttctgagctttttac c.*480
. . . . . . g.59855
acctaaaattaggctgaaatagctgagataattaatttggaacctatcaatttgagtgga c.*540
. . . . . . g.59915
ctttttctttagtagtacaccattttggttgttgtagtttcaaagtctttctgaagcaga c.*600
. . . . . . g.59975
tatattgggattggagcggggtggggaaaactgtcactcctttcagaggaaaaggggagg c.*660
. . . . . . g.60035
agcatggagaaaaacaaaaattaaaggacttaaagaatggctatacagtgttgagtgttg c.*720
. . . . . . g.60095
aggatattaaacatgttatttttcaaacgtatgtaatatatattaaatttataaagcaaa c.*780
. . . . . . g.60155
tttatgttgtgatcttgcctgaacaaattatattttaatgaaaaaactttctattaatag c.*840
. . . . . . g.60215
ttcacgcaagagaaaacactttcaacatagtcgaaggcttcaagatctaagtgtatcaga c.*900
. . . . . . g.60275
cttagggaaaaagtggcacaaccttcgatttaaaattctagtctttaaaatgagtttgta c.*960
. . . . . . g.60335
aataattagctattacgttctattaagttgttttatattttaattttctggaagacaatt c.*1020
. . . . g.60381
ttattttacaacgtgaacccaaataaagtaacttctgtatttaaaa c.*1066
(downstream sequence)
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