(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003924.3 in the PHOX2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008243.1, covering PHOX2B transcript NM_003924.3.
(upstream sequence)
. . . . . . g.5060
ttaaattctaattagagatgcaggaatcaatgatagggaggttggacagctcagttcccc c.-301
. . . . . . g.5120
agtgccagcccaatagacggatgagttattgtcatgtaaaaagcgccagcaataagacca c.-241
. . . . . . g.5180
accgctttgctattgtccaagtggaaagagccaagtttattatgaggactatatgctcta c.-181
. . . . . . g.5240
gagacctcagacaaggcatctcataggaggctttttcataaaactaggctctgctggtag c.-121
. . . . . . g.5300
taaggaggccagtttggaggcaggcgttgagctgtgcacatctccccactccagccacct c.-61
. . . . . . g.5360
tctccatatccatcttttatttcatttttccacttggctgagccatccagaaccttttca c.-1
. . . . . . g.5420
ATGTATAAAATGGAATATTCTTACCTCAATTCCTCTGCCTACGAGTCCTGTATGGCTGGG c.60
M Y K M E Y S Y L N S S A Y E S C M A G p.20
. . . . . . g.5480
ATGGACACCTCGAGCCTGGCTTCAGCCTATGCTGACTTCAGTTCCTGCAGCCAGGCCAGT c.120
M D T S S L A S A Y A D F S S C S Q A S p.40
. . . . . . g.5540
GGCTTCCAGTATAACCCGATAAGGACCACTTTTGGGGCCACGTCCGGCTGCCCTTCCCTC c.180
G F Q Y N P I R T T F G A T S G C P S L p.60
. . . . . . g.5600
ACGCCGGGATCCTGCAGCCTGGGCACCCTCAGGGACCACCAGAGCAGTCCGTACGCCGCA c.240
T P G S C S L G T L R D H Q S S P Y A A p.80
| 02 . . . . . . g.6493
G | TTCCTTACAAACTCTTCACGGACCACGGCGGCCTCAACGAGAAGCGCAAGCAGCGGCGC c.300
V | P Y K L F T D H G G L N E K R K Q R R p.100
. . . . . . g.6553
ATCCGCACCACTTTCACCAGTGCCCAGCTCAAAGAGCTGGAAAGGGTCTTCGCGGAGACT c.360
I R T T F T S A Q L K E L E R V F A E T p.120
. . . . . . g.6613
CACTACCCCGACATCTACACTCGGGAGGAGCTGGCCCTGAAGATCGACCTCACAGAGGCG c.420
H Y P D I Y T R E E L A L K I D L T E A p.140
| 03 . . . . . g.7699
CGAGTCCAG | GTGTGGTTCCAGAACCGCCGCGCCAAGTTTCGCAAGCAGGAGCGCGCAGCG c.480
R V Q | V W F Q N R R A K F R K Q E R A A p.160
. . . . . . g.7759
GCAGCCGCAGCGGCCGCGGCCAAGAACGGCTCCTCGGGCAAAAAGTCTGACTCTTCCAGG c.540
A A A A A A A K N G S S G K K S D S S R p.180
. . . . . . g.7819
GACGACGAGAGCAAAGAGGCCAAGAGCACTGACCCGGACAGCACTGGGGGCCCAGGTCCC c.600
D D E S K E A K S T D P D S T G G P G P p.200
. . . . . . g.7879
AATCCCAACCCCACCCCCAGCTGCGGGGCGAATGGAGGCGGCGGCGGCGGGCCCAGCCCG c.660
N P N P T P S C G A N G G G G G G P S P p.220
. . . . . . g.7939
GCTGGAGCTCCGGGGGCGGCGGGGCCCGGGGGCCCGGGAGGCGAACCCGGCAAGGGCGGC c.720
A G A P G A A G P G G P G G E P G K G G p.240
. . . . . . g.7999
GCAGCAGCAGCGGCGGCGGCCGCGGCAGCGGCGGCGGCGGCAGCGGCAGCGGCGGCAGCT c.780
A A A A A A A A A A A A A A A A A A A A p.260
. . . . . . g.8059
GGAGGCCTGGCTGCGGCTGGGGGCCCTGGACAAGGCTGGGCTCCCGGCCCCGGCCCCATC c.840
G G L A A A G G P G Q G W A P G P G P I p.280
. . . . . . g.8119
ACCTCCATCCCGGATTCGCTTGGGGGTCCCTTCGCCAGCGTCCTATCTTCGCTCCAAAGA c.900
T S I P D S L G G P F A S V L S S L Q R p.300
. . . . g.8164
CCCAACGGTGCCAAAGCCGCCTTAGTGAAGAGCAGTATGTTCTGA c.945
P N G A K A A L V K S S M F X p.314
. . . . . . g.8224
tctggaatcctgcggcggcggcggcggcggcgacagcgggcgagccagggcccgggcggg c.*60
. . . . . . g.8284
cgagtgggcgagcgggtaggcccaaggctattgtcgtcgctgctgccatggctttttcat c.*120
. . . . . . g.8344
tgagggcctaaagtaatcgcgctaagaataaagggaaaacggcgtcgccctcatttcaac c.*180
. . . . . . g.8404
cccactcctacccccttcctcaacccccaaacaaaacaaacaaacttccctggcttcgca c.*240
. . . . . . g.8464
cctgcctggggcctcgcagcggggccagggctccgcctgctgatcgggggttgtgagcag c.*300
. . . . . . g.8524
cgcggcctggacgcggggcactctcagggggctgtgtctgcgtgtcagtttgtgtctgtc c.*360
. . . . . . g.8584
tcggggaatgtgtgtctgtggcccaagcaggtgacaggaagagatggggggcctcaacca c.*420
. . . . . . g.8644
acttagtgacttgtttagaaaaaaaagacaaaaaagtaaaaataaaaacaaaaaagttgg c.*480
. . . . . . g.8704
aaggcagaaaccattaaaaaacaaaaagccaacaacccagaaaggtttaaaaaacataag c.*540
. . . . . . g.8764
gaaaaaaaagacaaattaaaggaggggctaggggagaagctgcagctggagctgaaggct c.*600
. . . . . . g.8824
cgatcttgtgaacccctaaatccgctccctcctaacagcacggattctcttggggctctt c.*660
. . . . . . g.8884
cttcagggaagagtagggacgccgttccagccccccttcctatcgtgtccttgggttcgg c.*720
. . . . . . g.8944
gtcactgcggcgacgacttgctcagactgtcccggcggccggagtgactttctcgcaccc c.*780
. . . . . . g.9004
ccttgcctgtcccacctcgctgaacaccatcccgccattagcgcatcggaaccccacaca c.*840
. . . . . . g.9064
gttgcaactcccaaccccgaatctttgcagccgttcggccctgaaagatgccctatccat c.*900
. . . . . . g.9124
gagatgccttttcatctgcaaactctgcaaaatgtgtctcatgtttcgcaactctttttt c.*960
. . . . . . g.9184
tccccctcgctcccgcctaccccgtcggcattttcttcttccaccagcttttactgaact c.*1020
. . . . . . g.9244
ttttggcactgctttggattggggtcaattgcagtccacgtaactggctgcagagaaatc c.*1080
. . . . . . g.9304
taccgagcaaggaaaaggcacacacacacgtttgcaggggtgtctcggtttgcatttctg c.*1140
. . . . . . g.9364
ttggaatgatccgaactggactcacatcctgtatggtggatggactgtatattgagggtt c.*1200
. . . . . . g.9424
ccattcttcgcgcagtttagacatctctgttttgattctttgttgttgtttttattttaa c.*1260
. . . . . . g.9484
aaggcacaaactctagatattagttgaatgttgaggctttaactttttcggtgtctttct c.*1320
. . . . . . g.9544
acaactgtgttctgtgactcaattgtatcgtgttaatatcagtgcagactgtctcctcta c.*1380
. . . . . . g.9604
cgtgaccgtataatgtttttctcttcttgtagtctctatggcgtgtctttatggtgtaat c.*1440
. . . . . . g.9664
aaggttctcacgggttcaatcttttgtgtttagagaggccacggttcagacaatggtata c.*1500
. . . . . . g.9724
tatttttgttatcaggtgcatgtctgtctgatttctttttttttcctgttggactatgtt c.*1560
. . . . . . g.9784
tgtgaacataattgtcataagttatgtttcagatttttgaatttatttatatgtgttata c.*1620
. . . . . . g.9844
atgaatgcttctatttaaaagggaaatatttctacatgtgcatatagttttccaagagtg c.*1680
. . . . g.9889
taccattaacttgattgttgataataaaaacaaaaagcaagtcta c.*1725
(downstream sequence)
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