(used for variant description)
(last modified October 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_014080.4 in the DUOX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009447.1, covering DUOX2 transcript NM_014080.4.
(upstream sequence)
. . g.5023
ggtctgtcctgagccgacacctg c.-181
. . . . . . g.5083
cacagtggcgagaccaaggacccagagagaaaggtgagagtgcagccggggaggctgagg c.-121
. . . . . . g.5143
atcggcggagctggaagagtgagggtgaaggcaagaagtagagcacagaagcaaagattt c.-61
. . . . . | 02 . g.5750
taagaggaaagaagacatctgaacccaacaccaccctaaaccacag | gctgcagggttggc c.-1
. . . . . . g.5810
ATGCTCCGTGCAAGACCAGAGGCACTGATGCTCCTGGGAGCTCTTCTGACTGGATCCCTG c.60
M L R A R P E A L M L L G A L L T G S L p.20
. | 03 . . . . . g.6135
GGTCCATCGGGCAA | TCAGGACGCACTCTCACTGCCCTGGGAAGTGCAGCGCTATGACGGC c.120
G P S G N | Q D A L S L P W E V Q R Y D G p.40
. . . . | 04 . . g.6463
TGGTTTAACAACCTGAGGCACCACGAGCGTGGTGCTGTTG | GCTGCCGGTTGCAGCGCCGC c.180
W F N N L R H H E R G A V G | C R L Q R R p.60
. . . . . . g.6523
GTACCAGCCAATTACGCCGACGGTGTGTATCAGGCTCTGGAGGAGCCGCAGCTGCCCAAC c.240
V P A N Y A D G V Y Q A L E E P Q L P N p.80
. . . . . . g.6583
CCGCGCCGGCTCAGCAACGCAGCCACGCGGGGCATAGCCGGCCTGCCGTCGCTCCACAAC c.300
P R R L S N A A T R G I A G L P S L H N p.100
. . | 05 . . . . g.7241
CGCACCGTACTGGGGGTCTTCTTTG | GCTACCATGTTCTTTCCGACGTGGTGAGCGTGGAA c.360
R T V L G V F F G | Y H V L S D V V S V E p.120
. . . . . . g.7301
ACGCCCGGTTGCCCCGCCGAGTTCCTCAACATCCGCATCCCACCTGGAGACCCCGTGTTC c.420
T P G C P A E F L N I R I P P G D P V F p.140
. . . . . . g.7361
GACCCCGACCAGCGCGGGGACGTGGTGCTGCCCTTCCAGAGGAGCCGCTGGGACCCCGAG c.480
D P D Q R G D V V L P F Q R S R W D P E p.160
. . . | 06 . . . g.7603
ACCGGACGGAGTCCCAGCAACCCCCGGGACCTG | GCCAACCAGGTGACGGGCTGGCTGGAC c.540
T G R S P S N P R D L | A N Q V T G W L D p.180
. . . . . . g.7663
GGCAGCGCCATCTATGGCTCCTCGCACTCCTGGAGCGACGCGCTGCGGAGCTTCTCGGGG c.600
G S A I Y G S S H S W S D A L R S F S G p.200
. . . . . . g.7723
GGACAGCTGGCGTCGGGGCCCGACCCCGCTTTCCCCCGAGACTCGCAGAACCCCCTGCTC c.660
G Q L A S G P D P A F P R D S Q N P L L p.220
. . . . . | 07 . g.7889
ATGTGGGCGGCGCCCGACCCCGCCACCGGGCAGAACGGGCCCCGGGGGCTGTACG | CCTTC c.720
M W A A P D P A T G Q N G P R G L Y A | F p.240
. . . . . . g.7949
GGGGCAGAGAGAGGGAACCGGGAACCCTTCCTGCAGGCGCTGGGCCTGCTCTGGTTCCGC c.780
G A E R G N R E P F L Q A L G L L W F R p.260
. . . . . . g.8009
TACCACAACCTGTGGGCGCAGAGGCTGGCCCGCCAGCACCCAGACTGGGAGGACGAGGAG c.840
Y H N L W A Q R L A R Q H P D W E D E E p.280
. . . . | 08 . . g.8469
CTGTTCCAGCACGCACGCAAGAGGGTCATCGCCACCTACCAG | AACATCGCTGTGTATGAG c.900
L F Q H A R K R V I A T Y Q | N I A V Y E p.300
. . . . | 09 . . g.8654
TGGCTGCCCAGCTTCCTGCAGAAAACACTCCCGGAGTATACAG | GATACCGTCCTTTCCTA c.960
W L P S F L Q K T L P E Y T G | Y R P F L p.320
. . . . . . g.8714
GACCCCAGCATCTCCCCGGAATTTGTGGTGGCCTCTGAGCAGTTCTTCTCTACCATGGTG c.1020
D P S I S P E F V V A S E Q F F S T M V p.340
. . | 10 . . . . g.9221
CCCCCTGGTGTCTACATGAG | AAATGCCAGCTGTCATTTCCGGAAGGTCCTGAACAAGGGT c.1080
P P G V Y M R | N A S C H F R K V L N K G p.360
. . . . . | 11 . g.9544
TTTCAAAGCTCCCAAGCTCTCAGGGTCTGCAACAACTACTGGATTCGGGAG | AACCCCAAT c.1140
F Q S S Q A L R V C N N Y W I R E | N P N p.380
. . . . . . g.9604
CTGAACAGTACCCAGGAGGTGAATGAGCTGCTGCTGGGAATGGCCTCCCAGATTTCGGAG c.1200
L N S T Q E V N E L L L G M A S Q I S E p.400
. . . | 12 . . . g.10235
TTGGAGGACAACATAGTGGTTGAAGATCTGAGGG | ATTACTGGCCTGGCCCTGGCAAATTC c.1260
L E D N I V V E D L R D | Y W P G P G K F p.420
. . . . . . g.10295
TCCCGTACAGACTATGTGGCCAGCAGCATCCAACGTGGCCGAGATATGGGGCTGCCCAGC c.1320
S R T D Y V A S S I Q R G R D M G L P S p.440
. . . . . . g.10355
TATAGCCAGGCCCTGCTGGCCTTTGGGCTGGACATCCCAAGGAACTGGAGTGATCTCAAC c.1380
Y S Q A L L A F G L D I P R N W S D L N p.460
. | 13 . . . . g.10981
CCTAATGTGGACCCCCAG | GTGCTGGAGGCCACAGCTGCCCTGTACAACCAGGACCTATCC c.1440
P N V D P Q | V L E A T A A L Y N Q D L S p.480
. . . . . . g.11041
CAGCTAGAGCTGCTCCTTGGGGGGCTCCTGGAGAGCCATGGGGACCCTGGACCCCTGTTC c.1500
Q L E L L L G G L L E S H G D P G P L F p.500
. . . . . . g.11101
AGTGCCATTGTCCTCGACCAGTTTGTACGGCTGCGGGATGGTGACCGCTACTGGTTTGAG c.1560
S A I V L D Q F V R L R D G D R Y W F E p.520
. | 14 . . . . . g.11744
AACACCAGGAATGG | GCTGTTCTCCAAGAAGGAGATTGAAGACATCCGAAATACCACCCTG c.1620
N T R N G | L F S K K E I E D I R N T T L p.540
. . . . . . g.11804
CGGGACGTGCTGGTCGCTGTTATCAACATTGACCCCAGTGCCCTGCAGCCCAATGTCTTT c.1680
R D V L V A V I N I D P S A L Q P N V F p.560
. | 15 . . . . . g.12239
GTCTGGCATAAAG | GTGCACCCTGCCCTCAACCTAAGCAGCTCACAACTGACGGCCTGCCC c.1740
V W H K G | A P C P Q P K Q L T T D G L P p.580
. . . . . . g.12299
CAGTGTGCACCCCTGACTGTGCTTGACTTCTTTGAAGGCAGCAGCCCTGGTTTTGCCATC c.1800
Q C A P L T V L D F F E G S S P G F A I p.600
. . . | 16 . . . g.12549
ACCATCATTGCTCTCTGCTGCCTTCCCTTAG | TGAGTCTGCTTCTCTCTGGAGTGGTGGCC c.1860
T I I A L C C L P L V | S L L L S G V V A p.620
. . . . . . g.12609
TATTTCCGGGGCCGAGAACACAAGAAGCTACAAAAGAAACTCAAAGAGAGCGTGAAGAAG c.1920
Y F R G R E H K K L Q K K L K E S V K K p.640
. . | 17 . . . . g.12869
GAAGCAGCCAAAGATGGAGTGCCAG | CGATGGAGTGGCCAGGCCCCAAGGAGAGGAGCAGT c.1980
E A A K D G V P A | M E W P G P K E R S S p.660
. . . . . . g.12929
CCCATCATCATCCAGCTGCTGTCAGACAGGTGTCTGCAGGTCCTGAACAGGCATCTCACT c.2040
P I I I Q L L S D R C L Q V L N R H L T p.680
. . . . . . g.12989
GTGCTCCGTGTGGTCCAGCTGCAGCCTCTGCAGCAGGTCAACCTCATCCTGTCCAACAAC c.2100
V L R V V Q L Q P L Q Q V N L I L S N N p.700
. . . . | 18 . g.13345
CGAGGATGCCGCACCCTGCTGCTCAAGATCCCTAAGGAGTATGACCTG | GTGCTGCTGTTT c.2160
R G C R T L L L K I P K E Y D L | V L L F p.720
. . . . . . g.13405
AGTTCTGAAGAGGAACGGGGCGCCTTTGTGCAGCAGCTATGGGACTTCTGCGTGCGCTGG c.2220
S S E E E R G A F V Q Q L W D F C V R W p.740
. . . . . . g.13465
GCTCTGGGCCTCCATGTGGCTGAGATGAGCGAGAAGGAGCTATTTAGGAAGGCTGTGACA c.2280
A L G L H V A E M S E K E L F R K A V T p.760
. . . . . | 19 . g.14802
AAGCAGCAGCGGGAACGCATCCTGGAGATCTTCTTCAGACACCTTTTTGCTCAG | GTGCTG c.2340
K Q Q R E R I L E I F F R H L F A Q | V L p.780
. . . . . . g.14862
GACATCAACCAGGCCGACGCAGGGACCCTGCCCCTGGACTCCTCCCAGAAGGTGCGGGAG c.2400
D I N Q A D A G T L P L D S S Q K V R E p.800
. . . . . . g.14922
GCCCTGACCTGCGAGCTGAGCAGGGCCGAGTTTGCCGAGTCCCTGGGCCTCAAGCCCCAG c.2460
A L T C E L S R A E F A E S L G L K P Q p.820
. . . . . . g.14982
GACATGTTTGTGGAGTCCATGTTCTCTCTGGCTGACAAGGATGGCAATGGCTACCTGTCC c.2520
D M F V E S M F S L A D K D G N G Y L S p.840
. . . . | 20 . . g.15128
TTCCGAGAGTTCCTGGACATCCTGGTGGTCTTCATGAAAG | GCTCCCCAGAGGATAAGTCC c.2580
F R E F L D I L V V F M K G | S P E D K S p.860
. . . . . . g.15188
CGTCTAATGTTTACCATGTATGACCTGGATGAGAATGGCTTCCTCTCCAAGGACGAATTC c.2640
R L M F T M Y D L D E N G F L S K D E F p.880
. | 21 . . . . . g.17218
TTCACCATGATGCG | ATCCTTCATCGAGATCTCCAACAACTGCCTGTCCAAGGCCCAGCTG c.2700
F T M M R | S F I E I S N N C L S K A Q L p.900
. . . . . . g.17278
GCCGAGGTGGTGGAGTCTATGTTCCGGGAGTCGGGATTCCAGGACAAGGAGGAGCTGACA c.2760
A E V V E S M F R E S G F Q D K E E L T p.920
. . . . . . g.17338
TGGGAGGATTTTCACTTCATGCTGCGGGACCATGACAGCGAGCTCCGCTTCACGCAGCTC c.2820
W E D F H F M L R D H D S E L R F T Q L p.940
. . . | 22 . . . g.17916
TGTGTCAAAGGTGGAGGTGGAGGTGGAAATG | GTATTAGAGATATCTTTAAACAAAACATC c.2880
C V K G G G G G G N G | I R D I F K Q N I p.960
. . . . | 23 . . g.18342
AGCTGTCGAGTCTCGTTCATCACTCGGACACCTGGGGAGCG | CTCCCACCCCCAGGGACTG c.2940
S C R V S F I T R T P G E R | S H P Q G L p.980
. . . . . . g.18402
GGGCCCCCTGCCCCAGAAGCCCCAGAGCTGGGAGGCCCTGGACTGAAGAAGAGGTTTGGC c.3000
G P P A P E A P E L G G P G L K K R F G p.1000
| 24 . . . . . . g.18988
AAAAA | GGCAGCAGTGCCCACTCCCCGGCTGTACACAGAGGCGCTGCAAGAGAAGATGCAG c.3060
K K | A A V P T P R L Y T E A L Q E K M Q p.1020
. . . . . . g.19048
CGAGGCTTCCTAGCCCAAAAGCTGCAGCAGTACAAGCGCTTCGTGGAGAACTACCGGAGG c.3120
R G F L A Q K L Q Q Y K R F V E N Y R R p.1040
. . . . . . g.19108
CACATCGTGTGTGTGGCAATCTTCTCGGCCATCTGTGTTGGCGTGTTTGCAGATCGTGCT c.3180
H I V C V A I F S A I C V G V F A D R A p.1060
| 25 . . . . . . g.19325
TACT | ACTATGGCTTTGCCTCGCCACCCTCGGACATTGCACAGACCACCCTCGTGGGCATC c.3240
Y Y | Y G F A S P P S D I A Q T T L V G I p.1080
. . . . . . g.19385
ATCCTGTCACGAGGCACGGCGGCCAGCGTCTCCTTCATGTTCTCTTATATCTTGCTCACC c.3300
I L S R G T A A S V S F M F S Y I L L T p.1100
. . . . . . g.19445
ATGTGCCGCAACCTCATAACCTTCCTGCGAGAGACTTTCCTCAACCGCTATGTGCCTTTT c.3360
M C R N L I T F L R E T F L N R Y V P F p.1120
. . . . . | 26 . g.19684
GATGCCGCAGTGGACTTCCACCGCTGGATCGCCATGGCTGCTGTTGTCCTGGCCA | TTTTG c.3420
D A A V D F H R W I A M A A V V L A I | L p.1140
. . . . . . g.19744
CACAGTGCTGGCCACGCAGTCAATGTCTACATCTTCTCAGTCAGCCCACTCAGCCTGCTG c.3480
H S A G H A V N V Y I F S V S P L S L L p.1160
. . . | 27 . . . g.21128
GCCTGCATATTCCCCAACGTCTTTGTGAATGATGG | GTCCAAGCTTCCCCAGAAGTTCTAT c.3540
A C I F P N V F V N D G | S K L P Q K F Y p.1180
. . | 28 . . . . g.21455
TGGTGGTTCTTCCAGACCGTCCCAG | GTATGACAGGTGTGCTTCTGCTCCTGGTCCTGGCC c.3600
W W F F Q T V P G | M T G V L L L L V L A p.1200
. . . . . . g.21515
ATCATGTATGTCTTCGCCTCCCACCACTTCCGCCGCCGCAGCTTCCGGGGCTTCTGGCTG c.3660
I M Y V F A S H H F R R R S F R G F W L p.1220
. . . | 29 . . . g.21797
ACCCACCACCTCTACATCCTGCTCTATGCCCTG | CTCATCATCCATGGCAGCTATGCTCTG c.3720
T H H L Y I L L Y A L | L I I H G S Y A L p.1240
. . . . . . g.21857
ATCCAGCTGCCCACTTTCCACATCTACTTCCTGGTCCCGGCAATCATCTATGGAGGTGAC c.3780
I Q L P T F H I Y F L V P A I I Y G G D p.1260
. . . . . . g.21917
AAGCTGGTGAGCCTGAGCCGGAAGAAGGTGGAGATCAGCGTGGTGAAGGCGGAGCTGCTG c.3840
K L V S L S R K K V E I S V V K A E L L p.1280
| 30. . . . . . g.23154
CCCTCAG | GAGTGACCTACCTGCAATTCCAGAGGCCCCAAGGCTTTGAGTACAAGTCAGGA c.3900
P S G | V T Y L Q F Q R P Q G F E Y K S G p.1300
. . . . . . g.23214
CAGTGGGTGCGGATCGCCTGCCTGGCTCTGGGGACCACCGAGTACCACCCCTTCACACTG c.3960
Q W V R I A C L A L G T T E Y H P F T L p.1320
. . . . . . g.23274
ACCTCCGCGCCCCATGAGGACACACTCAGCCTGCACATCCGGGCAGTGGGGCCCTGGACC c.4020
T S A P H E D T L S L H I R A V G P W T p.1340
. . . . . . g.23334
ACTCGCCTCAGGGAGATCTACTCATCCCCAAAGGGCAATGGCTGTGCTGGATACCCAAAG c.4080
T R L R E I Y S S P K G N G C A G Y P K p.1360
| 31 . . . . . . g.23626
| CTGTACCTTGATGGACCGTTTGGAGAGGGCCATCAGGAGTGGCATAAATTTGAGGTGTCA c.4140
| L Y L D G P F G E G H Q E W H K F E V S p.1380
. . . . . . g.23686
GTGTTGGTGGGAGGGGGCATTGGGGTCACCCCCTTTGCCTCCATCCTCAAAGACCTGGTC c.4200
V L V G G G I G V T P F A S I L K D L V p.1400
. . . | 32 . . g.24091
TTCAAGTCATCCTTGGGCAGCCAAATGCTGTGTAAGAAG | ATCTACTTCATCTGGGTGACA c.4260
F K S S L G S Q M L C K K | I Y F I W V T p.1420
. . . . . . g.24151
CGGACCCAGCGTCAGTTTGAGTGGCTGGCTGACATCATCCAAGAGGTGGAGGAGAACGAC c.4320
R T Q R Q F E W L A D I I Q E V E E N D p.1440
. . . . . . g.24211
CACCAGGACCTGGTGTCTGTGCACATTTATGTCACCCAGCTGGCTGAGAAGTTCGACCTC c.4380
H Q D L V S V H I Y V T Q L A E K F D L p.1460
. | 33 . . . . . g.24515
AGGACCACCATGCTA | TACATCTGCGAGCGGCACTTCCAGAAAGTGCTGAACCGGAGTCTG c.4440
R T T M L | Y I C E R H F Q K V L N R S L p.1480
. . . . . . g.24575
TTCACGGGCCTGCGCTCCATCACCCACTTTGGCCGTCCCCCCTTCGAGCCCTTCTTCAAC c.4500
F T G L R S I T H F G R P P F E P F F N p.1500
. . | 34 . . . . g.24925
TCCCTGCAGGAGGTCCACCCACAG | GTGCGCAAGATCGGGGTGTTCAGCTGCGGCCCTCCA c.4560
S L Q E V H P Q | V R K I G V F S C G P P p.1520
. . . . . . g.24985
GGAATGACCAAGAATGTAGAGAAGGCCTGTCAGCTCGTCAACAGGCAGGACCGAGCCCAC c.4620
G M T K N V E K A C Q L V N R Q D R A H p.1540
. . g.25012
TTCATGCACCACTATGAGAACTTCTGA c.4647
F M H H Y E N F X p.1548
. . . . . . g.25072
gcctgtcctccctggctgctgcttccagtatcctgccttctcttctgtgcacctaagttg c.*60
. . . . . . g.25132
cccagccctgctggcaatctctccatcagaatccaccttaggcctcagctggagggctgc c.*120
. . . . . . g.25192
agagcccctcccaatattgggagaatattgacccagacaattatacaaatgagaaaaggc c.*180
. . . . . . g.25252
aggagactatgttctacaattgcagtgcatgatgattataagtccacctgtttatcaacg c.*240
. . . . . . g.25312
gcaccattcctgcagccctccagacttcctgcccttagcaagtgcgcaaccagtcaggat c.*300
. . . . . . g.25372
ctcccaaagaagataaagaccactcctcaccccagctcaagccatggcaggcgtggcaag c.*360
. . . . . . g.25432
caaagtggggaggagacagtccctgcttgtgacaagtgtggaggtgaaaaggtacaatag c.*420
. . . . . . g.25492
tgcttgtctccgatagctccccacatctctaattgacttccacaaaatcgatgcgttgct c.*480
. . . . . . g.25552
ttggtatttgcttggactgacatttgagggaggaggaggctgggatcctctggctgagaa c.*540
. . . . . . g.25612
tctcctcagagcccagtgcagaagctgtgatgcttagaacctggacagcccgactgcctc c.*600
. . . . . . g.25672
aactctgtctccaggtctattccctccagctccaaaaggagcagccctacttctacccct c.*660
. . . . . . g.25732
tcccgtccccaaagtgtcagcaactttgaggagggcaccaggaaacaaagatgcctcccc c.*720
. . . . . . g.25792
agccctgatattcttgatgtcaccagtgatacccactgccctgacccctgggcaggcccc c.*780
. . . . . . g.25852
tctctgcatctactggagtggtccctgggctctggggctgaaggattccagcctctctgc c.*840
. . . . . . g.25912
cagatattcagtactcgatctcaattcccctcttccacaagagttgggtgaccagctgtc c.*900
. . . . . . g.25972
ctagtttgcccaggactctccctgttttagcactgaaagtctcttgccccaggaaacccc c.*960
. . . . . . g.26032
atcagtcccaggcagattgggacagctggtcaccttacgcaagagccaggctgaaacatc c.*1020
. . . . . . g.26092
ccctccatactcagctctttaacttttcttttcctttttcatcgggctctttcctaaaaa c.*1080
. . . . . . g.26152
gctgagctgtaaaatattttacatcgaggtataataaataatcatgtacatgttttacca c.*1140
. . . . . . g.26212
ccacccaggtcaagacatagaatgtttcaacatttccatcaccccagaaactccccttgt c.*1200
. . . . . . g.26272
acccccttccacttcgtctcccctagctcctagaagcaaccactgatgtgatttctacca c.*1260
. . . . . . g.26332
aatccagttttggtcctactaaatatactcttttgagactggcctcttttactcaccata c.*1320
. . . . . . g.26392
atgcctttgtaattcatccatgctgttgtgtgtatcagcagtttgttccttttcattgct c.*1380
. . . . . . g.26452
gagtagtattctattgtagagatgtaccacagtttgtttattcttctgttgatggacgtt c.*1440
. . . . . g.26508
tgggttgtttctaattttgaatgattataaataaaaattctgtgagtgttcttgta c.*1496
(downstream sequence)
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