(used for variant description)
(last modified May 19, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_013352.2 in the DSE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033266.3, covering DSE transcript NM_013352.2.
(upstream sequence)
. . . . g.95875
agtagcgtcgcccgaggctgcagcagcgcatcccggggcatggcgcgg c.-181
. . . . . . g.95935
cgggggcgcggagggctcggttcggagggggccgggagcccgggcgccctggagtgagga c.-121
. . . . . . g.95995
ggaccgggagctggctctggaggctgcggaggcgacgccggagagaacgaagcctcggct c.-61
. | 02 . . . . . g.124131
gggagcg | gatctttcgaagatggtttggctgccttggagatttggagatctgatgccacg c.-1
. . . . . . g.124191
ATGAGGACTCACACACGGGGGGCTCCCAGTGTGTTTTTCATATATTTGCTTTGCTTTGTG c.60
M R T H T R G A P S V F F I Y L L C F V p.20
. . . . . . g.124251
TCAGCCTACATCACCGACGAGAACCCAGAAGTTATGATTCCCTTCACCAATGCCAACTAC c.120
S A Y I T D E N P E V M I P F T N A N Y p.40
. . . . . . g.124311
GACAGCCATCCCATGCTGTACTTCTCCAGGGCAGAAGTGGCGGAGCTGCAGCTCAGGGCT c.180
D S H P M L Y F S R A E V A E L Q L R A p.60
. . . . . . g.124371
GCCAGCTCGCACGAGCACATTGCAGCCCGCCTCACGGAGGCTGTGCACACGATGCTGTCC c.240
A S S H E H I A A R L T E A V H T M L S p.80
. . . . . . g.124431
AGCCCCTTGGAATACCTCCCTCCCTGGGATCCCAAGGACTACAGTGCCCGCTGGAATGAA c.300
S P L E Y L P P W D P K D Y S A R W N E p.100
. . . . . . g.124491
ATTTTTGGAAACAACTTGGGTGCCTTGGCAATGTTCTGTGTGCTGTATCCTGAGAACATT c.360
I F G N N L G A L A M F C V L Y P E N I p.120
. . . . . | 03 . g.151458
GAAGCCCGAGACATGGCCAAAGACTACATGGAGAGGATGGCAGCGCAGCCTAGTTG | GTTG c.420
E A R D M A K D Y M E R M A A Q P S W | L p.140
. . . . . . g.151518
GTGAAAGATGCTCCTTGGGATGAGGTCCCGCTTGCTCACTCCCTGGTTGGTTTTGCCACT c.480
V K D A P W D E V P L A H S L V G F A T p.160
. . . . . . g.151578
GCTTATGACTTCTTGTACAACTACCTGAGCAAGACACAACAGGAGAAGTTTCTTGAAGTG c.540
A Y D F L Y N Y L S K T Q Q E K F L E V p.180
. . . . . . g.151638
ATTGCCAATGCCTCAGGGTATATGTATGAAACTTCATACAGGAGAGGATGGGGATTTCAA c.600
I A N A S G Y M Y E T S Y R R G W G F Q p.200
. . . . . . g.151698
TACCTGCACAATCATCAGCCCACCAACTGTATGGCTTTGCTCACGGGAAGCCTAGTCCTG c.660
Y L H N H Q P T N C M A L L T G S L V L p.220
. | 04 . . . . . g.155884
ATGAATCAAG | GATATCTTCAAGAAGCCTACTTATGGACCAAACAAGTTCTGACCATCATG c.720
M N Q G | Y L Q E A Y L W T K Q V L T I M p.240
. . . . . . g.155944
GAGAAATCTCTGGTCTTGCTCAGGGAGGTGACGGATGGCTCCCTCTATGAAGGAGTTGCG c.780
E K S L V L L R E V T D G S L Y E G V A p.260
. . . . . . g.156004
TATGGCAGCTACACCACTAGATCACTCTTCCAATACATGTTTCTCGTCCAGAGGCACTTC c.840
Y G S Y T T R S L F Q Y M F L V Q R H F p.280
. . . . . . g.156064
AACATCAACCACTTTGGCCATCCGTGGCTTAAACAACACTTTGCATTTATGTATAGAACC c.900
N I N H F G H P W L K Q H F A F M Y R T p.300
. | 05 . . . . . g.158273
ATCCTGCCAG | GGTTTCAAAGGACTGTGGCTATTGCGGACTCAAATTACAACTGGTTTTAT c.960
I L P G | F Q R T V A I A D S N Y N W F Y p.320
. . . . . . g.158333
GGTCCAGAAAGCCAATTAGTGTTCCTTGATAAATTTGTCATGCGTAATGGCAGTGGTAAC c.1020
G P E S Q L V F L D K F V M R N G S G N p.340
. . . . . . g.158393
TGGCTAGCTGACCAAATCAGAAGGAACCGTGTGGTGGAAGGTCCAGGAACACCATCCAAA c.1080
W L A D Q I R R N R V V E G P G T P S K p.360
. . . | 06 . . g.160489
GGGCAGCGCTGGTGCACTCTGCACACAGAATTTCTCTG | GTATGATGGCAGCTTGAAATCG c.1140
G Q R W C T L H T E F L W | Y D G S L K S p.380
. . . . . . g.160549
GTTCCTCCTCCAGACTTTGGCACCCCTACACTGCATTATTTTGAAGACTGGGGTGTCGTG c.1200
V P P P D F G T P T L H Y F E D W G V V p.400
. . . . . . g.160609
ACTTATGGAAGTGCACTACCTGCAGAAATCAATAGATCTTTCCTTTCCTTCAAGTCTGGA c.1260
T Y G S A L P A E I N R S F L S F K S G p.420
. . . . . . g.160669
AAACTGGGGGGACGTGCAATATATGACATTGTCCACAGAAACAAATACAAAGATTGGATC c.1320
K L G G R A I Y D I V H R N K Y K D W I p.440
. . . . . . g.160729
AAAGGATGGAGAAATTTTAATGCAGGGCATGAACATCCTGATCAAAACTCATTTACTTTT c.1380
K G W R N F N A G H E H P D Q N S F T F p.460
. . . . . . g.160789
GCTCCCAATGGTGTGCCTTTCATTACTGAGGCTCTGTACGGGCCAAAGTACACCTTCTTC c.1440
A P N G V P F I T E A L Y G P K Y T F F p.480
. . . . . . g.160849
AACAATGTTTTGATGTTTTCCCCAGCTGTGTCAAAGAGCTGCTTTTCTCCCTGGGTGGGT c.1500
N N V L M F S P A V S K S C F S P W V G p.500
. . . . . . g.160909
CAGGTCACAGAAGACTGCTCATCAAAATGGTCTAAATACAAGCATGACCTGGCAGCTAGT c.1560
Q V T E D C S S K W S K Y K H D L A A S p.520
. . . . . . g.160969
TGTCAGGGGAGGGTGGTTGCAGCAGAGGAGAAAAATGGGGTGGTTTTCATCCGAGGAGAA c.1620
C Q G R V V A A E E K N G V V F I R G E p.540
. . . . . . g.161029
GGTGTGGGAGCTTATAACCCCCAGCTCAACCTGAAGAATGTTCAGAGGAATCTCATCCTC c.1680
G V G A Y N P Q L N L K N V Q R N L I L p.560
. . . . . . g.161089
CTACATCCACAGCTGCTTCTCCTTGTAGACCAAATACACCTGGGAGAGGAGAGTCCCTTG c.1740
L H P Q L L L L V D Q I H L G E E S P L p.580
. . . . . . g.161149
GAGACAGCAGCGAGCTTCTTCCATAATGTGGATGTTCCTTTTGAGGAGACTGTGGTAGAT c.1800
E T A A S F F H N V D V P F E E T V V D p.600
. . . . . . g.161209
GGTGTCCATGGGGCTTTCATCAGGCAGAGAGATGGTCTCTATAAAATGTACTGGATGGAC c.1860
G V H G A F I R Q R D G L Y K M Y W M D p.620
. . . . . . g.161269
GATACTGGCTACAGCGAGAAAGCAACCTTTGCCTCAGTGACATATCCTCGGGGCTATCCC c.1920
D T G Y S E K A T F A S V T Y P R G Y P p.640
. . . . . . g.161329
TACAATGGGACAAACTATGTGAATGTCACCATGCACCTCCGAAGTCCCATCACCAGGGCA c.1980
Y N G T N Y V N V T M H L R S P I T R A p.660
. . . . . . g.161389
GCTTACCTCTTCATAGGGCCATCTATAGATGTTCAGAGCTTCACTGTCCACGGAGACTCT c.2040
A Y L F I G P S I D V Q S F T V H G D S p.680
. . . . . . g.161449
CAGCAACTGGATGTGTTCATAGCCACCAGCAAACATGCCTACGCCACATACCTGTGGACA c.2100
Q Q L D V F I A T S K H A Y A T Y L W T p.700
. . . . . . g.161509
GGTGAGGCCACAGGACAGTCTGCCTTTGCACAGGTCATTGCTGATCGTCACAAAATTCTG c.2160
G E A T G Q S A F A Q V I A D R H K I L p.720
. . . . . . g.161569
TTTGACCGGAATTCAGCCATCAAGAGCAGCATTGTCCCTGAGGTGAAGGACTATGCTGCT c.2220
F D R N S A I K S S I V P E V K D Y A A p.740
. . . . . . g.161629
ATTGTGGAACAGAACTTGCAGCATTTTAAACCAGTGTTTCAGCTGCTGGAGAAGCAGATA c.2280
I V E Q N L Q H F K P V F Q L L E K Q I p.760
. . . . . . g.161689
CTGTCCCGAGTCCGGAACACAGCTAGCTTTAGGAAGACTGCTGAACGCCTGCTGAGATTT c.2340
L S R V R N T A S F R K T A E R L L R F p.780
. . . . . . g.161749
TCAGATAAGAGACAGACTGAGGAGGCCATTGACAGGATTTTTGCCATATCACAGCAACAG c.2400
S D K R Q T E E A I D R I F A I S Q Q Q p.800
. . . . . . g.161809
CAGCAGCAAAGCAAGTCAAAGAAAAACCGAAGGGCAGGCAAACGCTATAAATTTGTGGAT c.2460
Q Q Q S K S K K N R R A G K R Y K F V D p.820
. . . . . . g.161869
GCTGTCCCTGATATTTTTGCACAGATTGAAGTCAATGAGAAAAAGATTAGACAGAAAGCT c.2520
A V P D I F A Q I E V N E K K I R Q K A p.840
. . . . . . g.161929
CAGATTTTGGCACAGAAAGAACTACCCATAGATGAAGATGAAGAAATGAAAGACCTTTTA c.2580
Q I L A Q K E L P I D E D E E M K D L L p.860
. . . . . . g.161989
GATTTTGCAGATGTAACATACGAGAAACATAAAAATGGGGGCTTGATTAAAGGCCGGTTT c.2640
D F A D V T Y E K H K N G G L I K G R F p.880
. . . . . . g.162049
GGACAGGCACGGATGGTGACAACTACACACAGCAGGGCCCCATCACTGTCTGCTTCCTAT c.2700
G Q A R M V T T T H S R A P S L S A S Y p.900
. . . . . . g.162109
ACCAGGTTGTTCCTGATTCTGAACATTGCTATTTTCTTTGTCATGTTGGCAATGCAACTG c.2760
T R L F L I L N I A I F F V M L A M Q L p.920
. . . . . . g.162169
ACTTATTTCCAGAGGGCCCAGAGCCTACATGGCCAAAGATGTCTTTATGCAGTTCTTCTC c.2820
T Y F Q R A Q S L H G Q R C L Y A V L L p.940
. . . . . g.162226
ATAGATAGCTGTATTTTATTATGGTTGTACTCTTCTTGTTCCCAATCACAGTGTTAG c.2877
I D S C I L L W L Y S S C S Q S Q C X p.958
. . . . . . g.162286
cactgaagctataaattacctggtcattttgtgatcacaagagtctatgcaaaaaaaaaa c.*60
. . . . . . g.162346
atttctttaccccagattatcagatttttttccctcagattcattttaacaaattaaggg c.*120
. . . . . . g.162406
aagatattttgacacaagaaagcaggaacgtggagaaattggagcaggaaaagaaattat c.*180
. . . . . . g.162466
caaagcaatagaaatagcttggtggtcctatggtgtttttggaagtatttggcattgcta c.*240
. . . . . . g.162526
attgagcagtccatatagtactacttttagaagaaacaaaaagtctattttttaaagtaa c.*300
. . . . . . g.162586
tgttttttcttatgagaaaaaggtttagatagaattgggttttattaatattaatttaat c.*360
. . . . . . g.162646
gctattagcaatttccatatactatattgtggaaaagactgaagaatacaattctgagaa c.*420
. . . . . . g.162706
atataaaaaaattttaatggtatactcatgttgaaagataaatgttgctaagtcctggta c.*480
. . . . . . g.162766
tgatggtgtgagcttccttggggaagtacttcttgagttatgtaactaacaggatgtttt c.*540
. . . . . . g.162826
actacagatctggatggctattcagataacatggcaaaaaatgatagcagaagatcatta c.*600
. . . . . . g.162886
aaaacttaaaatatattttattagaaaacatttatctatgaatgaatatttccttgatgc c.*660
. . . . . . g.162946
tggtctctgcacacatatgcttggttacttgcatgcattcattggttgttcaataagtga c.*720
. . . . . . g.163006
gatgattacagataatactgtattttccttatatggaaaaccgttatagacccaataaca c.*780
. . . . . . g.163066
actaaacctttcaaaagaaaatattttctattatgaatgttgattttcataccaaagaag c.*840
. . . . . . g.163126
atggagagtctaaaatttggatatgattcttatgtttttttaatagaaaaccttcttcaa c.*900
. . . g.163160
gtttattttcctaaataaacatcataattgtgaa c.*934
(downstream sequence)
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