(used for variant description)
(last modified November 1, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_139058.2 in the ARX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008281.1, covering ARX transcript NM_139058.2.
(upstream sequence)
. . . g.5031
ttgtcctgagcgcggagagggcgagctcggg c.-181
. . . . . . g.5091
ccgcgggcagggcgggagccggcagccggcaaccaagggaggcagaaaggcacaaagatc c.-121
. . . . . . g.5151
gcaataatatccgttataacccgctatctaaccccacccccaacacacacccatccatcc c.-61
. . . . . . g.5211
caccctccgggagaggcagccggcgatccgctctctgcgccctgggaaaaagccccagcc c.-1
. . . . . . g.5271
ATGAGCAATCAGTACCAGGAGGAGGGCTGCTCCGAGAGGCCCGAGTGCAAAAGTAAATCT c.60
M S N Q Y Q E E G C S E R P E C K S K S p.20
. . . . . . g.5331
CCAACTTTGCTCTCCTCCTACTGCATCGACAGCATCCTGGGCCGGAGGAGCCCGTGCAAA c.120
P T L L S S Y C I D S I L G R R S P C K p.40
. . . . . . g.5391
ATGCGGTTGCTGGGAGCCGCGCAGAGCTTGCCTGCTCCGCTGACCAGCCGCGCCGACCCG c.180
M R L L G A A Q S L P A P L T S R A D P p.60
. | 02 . . . . . g.7194
GAAAAGGCCGTGCAAG | GCTCCCCTAAGAGCAGCAGCGCCCCGTTCGAGGCCGAGCTGCAC c.240
E K A V Q G | S P K S S S A P F E A E L H p.80
. . . . . . g.7254
CTGCCGCCCAAGCTGCGGCGCCTGTACGGCCCGGGCGGGGGCCGCCTCCTTCAGGGTGCG c.300
L P P K L R R L Y G P G G G R L L Q G A p.100
. . . . . . g.7314
GCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCCGCCACGGCCACGGCGGGT c.360
A A A A A A A A A A A A A A A T A T A G p.120
. . . . . . g.7374
CCACGCGGGGAGGCCCCTCCGCCGCCACCGCCAACCGCGCGGCCCGGGGAACGGCCGGAC c.420
P R G E A P P P P P P T A R P G E R P D p.140
. . . . . . g.7434
GGCGCAGGGGCCGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCTGGGACACGCTCAAG c.480
G A G A A A A A A A A A A A A W D T L K p.160
. . . . . . g.7494
ATCAGCCAGGCGCCGCAGGTGAGCATCAGCCGCAGCAAGTCGTACCGCGAGAACGGGGCG c.540
I S Q A P Q V S I S R S K S Y R E N G A p.180
. . . . . . g.7554
CCCTTCGTGCCGCCGCCGCCCGCGCTGGACGAGCTGGGCGGCCCGGGGGGCGTCACGCAC c.600
P F V P P P P A L D E L G G P G G V T H p.200
. . . . . . g.7614
CCGGAGGAGCGCCTCGGCGTGGCCGGCGGCCCGGGCAGCGCCCCGGCTGCGGGTGGTGGC c.660
P E E R L G V A G G P G S A P A A G G G p.220
. . . . . . g.7674
ACCGGCACCGAGGACGACGAGGAGGAGCTGCTGGAGGACGAAGAAGATGAGGACGAGGAA c.720
T G T E D D E E E L L E D E E D E D E E p.240
. . . . . . g.7734
GAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGACGCCCGCGCGCTGCTC c.780
E E L L E D D E E E L L E D D A R A L L p.260
. . . . . . g.7794
AAGGAGCCCCGGCGCTGTCCTGTGGCCGCCACTGGCGCCGTGGCCGCAGCAGCTGCCGCT c.840
K E P R R C P V A A T G A V A A A A A A p.280
. . . . . . g.7854
GCAGTGGCCACAGAGGGCGGGGAGCTGTCACCCAAGGAGGAGCTGCTGCTGCACCCGGAA c.900
A V A T E G G E L S P K E E L L L H P E p.300
. . . . . . g.7914
GACGCTGAGGGCAAGGACGGCGAGGACAGCGTGTGCCTCTCTGCGGGCAGCGACTCGGAG c.960
D A E G K D G E D S V C L S A G S D S E p.320
. . . . . . g.7974
GAGGGGCTGCTGAAACGCAAACAGAGGCGCTACCGCACCACGTTCACCAGCTACCAGCTG c.1020
E G L L K R K Q R R Y R T T F T S Y Q L p.340
. . . . . | 03 . g.10650
GAGGAACTGGAGCGGGCCTTCCAGAAGACGCACTACCCGGACGTCTTCACCAG | GGAGGAA c.1080
E E L E R A F Q K T H Y P D V F T R | E E p.360
. . . | 04 . . g.13530
CTGGCCATGAGGCTGGACTTGACCGAGGCCCGAGTCCAG | GTCTGGTTCCAGAACCGTCGG c.1140
L A M R L D L T E A R V Q | V W F Q N R R p.380
. . . . . . g.13590
GCCAAGTGGCGCAAGCGGGAGAAGGCAGGCGCGCAGACCCACCCCCCTGGGCTGCCCTTC c.1200
A K W R K R E K A G A Q T H P P G L P F p.400
. . . . . . g.13650
CCGGGGCCGCTCTCCGCCACCCACCCGCTCAGCCCCTACCTGGACGCCAGCCCCTTCCCT c.1260
P G P L S A T H P L S P Y L D A S P F P p.420
. . . . . . g.13710
CCGCACCACCCGGCGCTCGACTCCGCTTGGACTGCCGCTGCCGCCGCCGCCGCCGCCGCC c.1320
P H H P A L D S A W T A A A A A A A A A p.440
. . . . . . g.13770
TTCCCGAGCCTACCTCCGCCTCCGGGCTCGGCCAGCCTGCCGCCCAGCGGGGCGCCGCTG c.1380
F P S L P P P P G S A S L P P S G A P L p.460
. . . . . . g.13830
GGCCTGAGCACTTTCCTCGGAGCGGCAGTGTTCCGACACCCAGCTTTCATCAGCCCGGCA c.1440
G L S T F L G A A V F R H P A F I S P A p.480
| 05 . . . . . g.16090
TTCGGCAG | GCTCTTTTCCACAATGGCCCCCCTGACCAGCGCGTCGACCGCGGCCGCGCTC c.1500
F G R | L F S T M A P L T S A S T A A A L p.500
. . . . . . g.16150
CTGAGACAGCCCACACCCGCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCG c.1560
L R Q P T P A V E G A V A S G A L A D P p.520
. . . . . . g.16210
GCCACGGCGGCCGCAGACAGACGCGCCTCTAGCATAGCCGCGCTGAGGCTCAAGGCCAAG c.1620
A T A A A D R R A S S I A A L R L K A K p.540
. . . . . . g.16270
GAGCACGCGGCGCAGCTCACGCAGCTCAACATCCTGCCGGGCACCAGCACGGGCAAGGAG c.1680
E H A A Q L T Q L N I L P G T S T G K E p.560
g.16279
GTGTGCTAA c.1689
V C X p.562
. . . . . . g.16339
aggctgccctccacacccgcgccccgcgcgcgccccgaaaggtcacctcactcagcacca c.*60
. . . . . . g.16399
ctcaagaccaaatggaaacagaggaccagcacactcccgagacggcactgagagagcgca c.*120
. . . . . . g.16459
gccgccttcacagcagtctggatgcgggcatggcagccctcggcgctccgggacgtggca c.*180
. . . . . . g.16519
cctcctcggctggctgtccacccgcccctgcccctgcccctgctactgccaacctcgctc c.*240
. . . . . . g.16579
caactccaacatccactctctcttgttcttactttcctgaaaatatcggggaggttttct c.*300
. . . . . . g.16639
cccccagacgcctgatattgaagtaaaaaatttaaaaagcccaacctcttcctcctgaca c.*360
. . . . . . g.16699
ccccacttagcctttcttttctttctttctttctttcttttttttttttaaatagcattt c.*420
. . . . . . g.16759
tggcgctcgaagttgatctccccagcgagggccccagcgtgaagccagggcccgggaagc c.*480
. . . . . . g.16819
aaatgcgagcctgtaagatagctaacagtgcacttaaaggaaaggggcgtcttgttcttg c.*540
. . . . . . g.16879
ttctcttctttatcatacaccaaccaaggtttttatatcaaaccaaagggaaataatact c.*600
. . . . . . g.16939
ctgctagaatatggactgttgaagtcaccaaactgtgattattgattctgtacataccat c.*660
. . . . . . g.16999
tgttattaaaaaaaaaaaaaaaagaacagagctttgtatatttgaaatgttataacgcaa c.*720
. . . . . . g.17059
ttgcactcagcgtggtatggtaaaagtttgtcctcccgtagattcttactgtgttgtaga c.*780
. . . . . . g.17119
tacggtagggttcctagacaaatatttatgtactcaagccctttatttaacttattaact c.*840
. . . . . . g.17179
gtagaggcttccgaaaccttcaagataaaggcaatggtacagtacttttgtgtaatgtgt c.*900
. . . . . . g.17239
aattgttaccacttttccttgctatctagtggagaagtgtcacgctcaaaataaaaaaat c.*960
. g.17255
tatatgtttaacaaaa c.*976
(downstream sequence)
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