(used for variant description)
(last modified October 21, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001650.4 in the AQP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029560.1, covering AQP4 transcript NM_001650.4.
(upstream sequence)
g.5003
gac c.-61
. . . . . . g.5063
tcccagcacacagggagctgcggggcaggcaatgagagctgcactctggctggggaaggc c.-1
. . . | 02 . . . g.8184
ATGAGTGACAGACCCACAGCAAGGCGGTGGGG | TAAGTGTGGACCTTTGTGTACCAGAGAG c.60
M S D R P T A R R W G | K C G P L C T R E p.20
. . . . . . g.8244
AACATCATGGTGGCTTTCAAAGGGGTCTGGACTCAAGCTTTCTGGAAAGCAGTCACAGCG c.120
N I M V A F K G V W T Q A F W K A V T A p.40
. . . . . . g.8304
GAATTTCTGGCCATGCTTATTTTTGTTCTCCTCAGCCTGGGATCCACCATCAACTGGGGT c.180
E F L A M L I F V L L S L G S T I N W G p.60
. . . . . . g.8364
GGAACAGAAAAGCCTTTACCGGTCGACATGGTTCTCATCTCCCTTTGCTTTGGACTCAGC c.240
G T E K P L P V D M V L I S L C F G L S p.80
. . . . . . g.8424
ATTGCAACCATGGTGCAGTGCTTTGGCCATATCAGCGGTGGCCACATCAACCCTGCAGTG c.300
I A T M V Q C F G H I S G G H I N P A V p.100
. . . . . . g.8484
ACTGTGGCCATGGTGTGCACCAGGAAGATCAGCATCGCCAAGTCTGTCTTCTACATCGCA c.360
T V A M V C T R K I S I A K S V F Y I A p.120
. . . . . . g.8544
GCCCAGTGCCTGGGGGCCATCATTGGAGCAGGAATCCTCTATCTGGTCACACCTCCCAGT c.420
A Q C L G A I I G A G I L Y L V T P P S p.140
. . | 03. . . . g.9490
GTGGTGGGAGGCCTGGGAGTCACCATG | GTTCATGGAAATCTTACCGCTGGTCATGGTCTC c.480
V V G G L G V T M | V H G N L T A G H G L p.160
. . . . . . g.9550
CTGGTTGAGTTGATAATCACATTTCAATTGGTGTTTACTATCTTTGCCAGCTGTGATTCC c.540
L V E L I I T F Q L V F T I F A S C D S p.180
. . . . . . g.9610
AAACGGACTGATGTCACTGGCTCAATAGCTTTAGCAATTGGATTTTCTGTTGCAATTGGA c.600
K R T D V T G S I A L A I G F S V A I G p.200
. | 04 . . . . . g.9948
CATTTATTTGCA | ATCAATTATACTGGTGCCAGCATGAATCCCGCCCGATCCTTTGGACCT c.660
H L F A | I N Y T G A S M N P A R S F G P p.220
. . . | 05 . . . g.14290
GCAGTTATCATGGGAAATTGGGAAAACCATTGG | ATATATTGGGTTGGGCCCATCATAGGA c.720
A V I M G N W E N H W | I Y W V G P I I G p.240
. . . . . . g.14350
GCTGTCCTCGCTGGTGGCCTTTATGAGTATGTCTTCTGTCCAGATGTTGAATTCAAACGT c.780
A V L A G G L Y E Y V F C P D V E F K R p.260
. . . . . . g.14410
CGTTTTAAAGAAGCCTTCAGCAAAGCTGCCCAGCAAACAAAAGGAAGCTACATGGAGGTG c.840
R F K E A F S K A A Q Q T K G S Y M E V p.280
. . . . . . g.14470
GAGGACAACAGGAGTCAGGTAGAGACGGATGACCTGATTCTAAAACCTGGAGTGGTGCAT c.900
E D N R S Q V E T D D L I L K P G V V H p.300
. . . . . . g.14530
GTGATTGACGTTGACCGGGGAGAGGAGAAGAAGGGGAAAGACCAATCTGGAGAGGTATTG c.960
V I D V D R G E E K K G K D Q S G E V L p.320
. g.14542
TCTTCAGTATGA c.972
S S V X p.323
. . . . . . g.14602
ctagaagatcgcactgaaagcagacaagactccttagaactgtcctcagatttccttcca c.*60
. . . . . . g.14662
cccattaaggaaacagatttgttataaattagaaatgtgcaggtttgttgtttcatgtca c.*120
. . . . . . g.14722
tattactcagtctaaacaataaatatttcataatttacaaaggaggaacggaagaaacct c.*180
. . . . . . g.14782
attgtgaattccaaatctaaaaaaagaaatatttttaaaatgttcttaagcaaatatata c.*240
. . . . . . g.14842
cctattttatctagttacctttcattaacaaccaattttaaccgtgtgtcaagatttggt c.*300
. . . . . . g.14902
taagtcttgcctgacagaactcaaagacacgtctatcagcttattccttctctactggaa c.*360
. . . . . . g.14962
tattggtatagtcaattcttatttgaatatttattctattaaactgagtttaacaatggc c.*420
. . . . . . g.15022
aaaatacagtatgtcacagtcatgcacattcaagagagaaaatataacaagttcttttat c.*480
. . . . . . g.15082
gagcaatcccttatgcatagactaccttggcaaaagagcattagcaagtgtcactgctca c.*540
. . . . . . g.15142
tcagttacttccttccatttatatcacaaatacccaagtttcaattctaacttcatttca c.*600
. . . . . . g.15202
tggtatttcttcctcctcaatgcccaaggtaatgtgggactaaagcccagaaatttgaaa c.*660
. . . . . . g.15262
agaatattcagaaatccttcccaaatcataagggcacctattgagattcaagacaagcag c.*720
. . . . . . g.15322
actcgtaaaatcttgtagaggcagaggcaaagttatcatcatacaaaaatcacaaacaaa c.*780
. . . . . . g.15382
aaggagatctgtattcgggtatcaaacggttgatctgttttcagtgcacaccctcaaatg c.*840
. . . . . . g.15442
caccacaccagttttacgatctaagcttttaacccctttaccactttgcttatttttaaa c.*900
. . . . . . g.15502
aaatttattggcaaaactggggattttgtttgtaactttggttatctatatttaaacatt c.*960
. . . . . . g.15562
agctgagacatatttttgataacaagaacttagctagttgagtcctggctttttgttgat c.*1020
. . . . . . g.15622
tattaagctgtgttcactctagaaggtgtaaaggccctgtcccaatctctgctctctcac c.*1080
. . . . . . g.15682
ttctcgtgacatttgttgataatctttactgcaagtgtaatgatatttgagtgaattaaa c.*1140
. . . . . . g.15742
atgcatgacagacaaggtacaacatggttgcagaataaaagggtgaggacatcagatcac c.*1200
. . . . . . g.15802
tctgtattcaaagcttactagacgaacaatctttcatttctggatatattgtagctaacc c.*1260
. . . . . . g.15862
caacacatttttaaactatttttgttactgactcacttacttgtcaaaataattggtttt c.*1320
. . . . . . g.15922
tctgtcctgctttgccttttgtcactagaatgttctccagaaaccccagtttctgtcatc c.*1380
. . . . . . g.15982
ttaactgtctagtctagccgttaacttagacaaagaagtgcaaatgtcaatttcactaaa c.*1440
. . . . . . g.16042
caaaagctattagaagtaaagcagaaacctatcactgcaaggagtgacttgtaaataact c.*1500
. . . . . . g.16102
gatgatcaagggctgtcttctctcaagcatggttccaactctgtgtcactttttagcgtt c.*1560
. . . . . . g.16162
aatggcagttgtgtgtctgtggcagtgagataatggaccactattaaacctgattctctt c.*1620
. . . . . . g.16222
cggtgctaggaaagagtgatgtgtgagattcccagagagtcgtcacaccagtgttatgcc c.*1680
. . . . . . g.16282
tgggagtgccactggcataccgcaggtgcctaaatcccaggcccctttctcagggggcgt c.*1740
. . . . . . g.16342
ggccacaccacacactgcgccagtgacacatagttacttcctggctgggacggcacctat c.*1800
. . . . . . g.16402
agaaactagggtacaaatctcccaaagatggtttgcaccgtcatttcaaatgtttgcaca c.*1860
. . . . . . g.16462
atataccacttagaggcttaaaatcagggtggttcagttcaaaaggtaatatcaaccgtc c.*1920
. . . . . . g.16522
agcaaacatgtcagtttaaaaataagttcggttaacaaggaagtgttaagcagatttttt c.*1980
. . . . . . g.16582
gaatacacttacaatatactggcttataatcatttttattctgccatatggtttatttca c.*2040
. . . . . . g.16642
tatacactcacttttacactcacttccaattatagcattcaataagttacggttaaagaa c.*2100
. . . . . . g.16702
aagtgaatggtgtttttgtaatttgttttctagtagctagcagagagcctggcacatagt c.*2160
. . . . . . g.16762
atgtattcaaaacaagtgtgttaattaataaaaatatataaatctcatttgagatttaag c.*2220
. . . . . . g.16822
aatataaataattttcttttaatctttattttgctcaatatttaataggaagtatgattt c.*2280
. . . . . . g.16882
caaggactactaaaggaaggcaatatacatgtgaaaaccataaaatacattttttgcatt c.*2340
. . . . . . g.16942
ctactatttttaggggcatgaaatgaatgaaagctttagcacttttttgcccctacatat c.*2400
. . . . . . g.17002
gagacaacatattttgtatttcactcaaggctctgccagtaaaaagtaatgaaattgtac c.*2460
. . . . . . g.17062
ctttctaatgacatctatgcagcaggggtctatcgccttgtggatggcaccaaattatcc c.*2520
. . . . . . g.17122
aagtgtattaggagactggggcttttttctttaatcccttcttattaatgaagtgcatag c.*2580
. . . . . . g.17182
tgctgctcccaggagaccactgctgacagatacacagagaagagatcagagaggaaaaac c.*2640
. . . . . . g.17242
tgggaagacataaatgaattatacccagccatgaaacaatgccaactgtctcttccctaa c.*2700
. . . . . . g.17302
ggaagagtacaagtaccctaaaattgaaaggtggtccctacactgaaaacgcacatagtt c.*2760
. . . . . . g.17362
tgtcaaaagtgtacaaaagggaaagagtcttattttaagctttcaggctttcttaaaaac c.*2820
. . . . . . g.17422
ttggggaccagaatttcaatgtatgtttccattgttgaagataacattttcttcaaagag c.*2880
. . . . . . g.17482
ccttaaccttttgtactggaaggaaatattttctggacttaagtagttgcctaaatttaa c.*2940
. . . . . . g.17542
gattcctacactttatttctgccattgatgcttttcctaaacccttatactatcttttta c.*3000
. . . . . . g.17602
ttatctgagccttttcctaatgcagctcataggtgctagctagagctgctgctcagtatt c.*3060
. . . . . . g.17662
gaagactttacaaggagattagaaatctttggaaaacatatgtgatgaaattgagctata c.*3120
. . . . . . g.17722
tgatttatcagagatctgattccaaagagcacagaatactgttctcagaccatgaaacca c.*3180
. . . . . . g.17782
gacaacacatgtattggtttaaactcgataatgacaggaaaattccaaactagagcagta c.*3240
. . . . . . g.17842
aattcaaatggtaagatgaatcctagaaggcctctgattgcagcatgttgacaccaacct c.*3300
. . . . . . g.17902
cacgttacgaacaattcacagagaatttgcctttgtggcaactgaagatggaagtctggg c.*3360
. . . . . . g.17962
gggcacagacaaccttatcaaacaatataaaagccaatataaattctcataagcactata c.*3420
. . . . . . g.18022
gaatttgcaaattcagaacattttatacctaaaagtaattctgtctttcctaaagtgttt c.*3480
. . . . . . g.18082
ttaacatgaaaattagtaggaagatgtggttactatttggaaagtgtaatgtaacaaaac c.*3540
. . . . . . g.18142
tctcttttgttaccacaaattttgtgagtttagtactctacagattgccccataagagca c.*3600
. . . . . . g.18202
gtagcttttgaaactcataattctctgaaataaatgaaagacatttaattcaaggatcaa c.*3660
. . . . . . g.18262
aaattgtggccatctttgcaaatgactacctatagcctgtgaaaatacatttcaaaaaat c.*3720
. . . . . . g.18322
gttatgtgcaatgaacactaaatttaagagcagttacagtgtgactcactcatgtttaaa c.*3780
. . . . . . g.18382
aaaaatcgaagagctaaaaaatacgtctaatttatgtaacccattggaatgtatttctag c.*3840
. . . . . . g.18442
gttctcttcaggattaattaaataaacatgcaatttatgaaaacatataaacaattattt c.*3900
. . . . . . g.18502
atcacttttatgacccaaatcacaataaaattgtcatttaggataaactggggagaatag c.*3960
. . . . . . g.18562
actgaacatatggttatattcacagttatttattaacttaaatgttattccaacattaga c.*4020
. . . . . . g.18622
gctaatgttaaaaagatttaaactgtaacgtctaatatttggaataatatattaaagtat c.*4080
. . . . . . g.18682
tagcactgtggttgattttcttgaattatgttgcatcttgtactactaagcttgtgaaaa c.*4140
. . g.18710
taaacatttggatgttttaaaaggtaaa c.*4168
(downstream sequence)
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