(used for mutation description)
(last modified April 10, 2010)
This file was created to facilitate the description of sequence variants in the DES gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008043.1, covering DES transcript NM_001927.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . g.5026
gtctcccctcgccgcatccactctcc c.-61
. . . . . . g.5086
ggccggccgcctgcccgccgcctcctccgtgcgcccgccagcctcgcccgcgccgtcacc c.-1
. . . . . . g.5146
ATGAGCCAGGCCTACTCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGG c.60
M S Q A Y S S S Q R V S S Y R R T F G G p.20
. . . . . . g.5206
GCCCCGGGCTTCCCACTCGGCTCCCCGCTGAGTTCGCCCGTGTTCCCGCGGGCGGGTTTC c.120
A P G F P L G S P L S S P V F P R A G F p.40
. . . . . . g.5266
GGCTCTAAGGGCTCCTCCAGCTCGGTGACGTCCCGCGTGTACCAGGTGTCGCGCACGTCG c.180
G S K G S S S S V T S R V Y Q V S R T S p.60
. . . . . . g.5326
GGCGGGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCC c.240
G G A G G L G S L R A S R L G T T R T P p.80
. . . . . . g.5386
TCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCTCACTGGCCGACGCGGTGAACCAGGAG c.300
S S Y G A G E L L D F S L A D A V N Q E p.100
. . . . . . g.5446
TTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCC c.360
F L T T R T N E K V E L Q E L N D R F A p.120
. . . . . . g.5506
AACTACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTG c.420
N Y I E K V R F L E Q Q N A A L A A E V p.140
. . . . . . g.5566
AACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGG c.480
N R L K G R E P T R V A E L Y E E E L R p.160
. . . . . . g.5626
GAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGC c.540
E L R R Q V E V L T N Q R A R V D V E R p.180
. . . | 02 . . g.6740
GACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAA | GCTGCAGGAGGAGATTCAGTTG c.600
D N L L D D L Q R L K A K | L Q E E I Q L p.200
. . . | 03 . . g.6895
AAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAGCG | GACGTGGATGCAGCTACTCTA c.660
K E E A E N N L A A F R A | D V D A A T L p.220
. . . . . . g.6955
GCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAG c.720
A R I D L E R R I E S L N E E I A F L K p.240
. | 04 . . . . . g.7163
AAAGTGCATGAAGAG | GAGATCCGTGAGTTGCAGGCTCAGCTTCAGGAACAGCAGGTCCAG c.780
K V H E E | E I R E L Q A Q L Q E Q Q V Q p.260
. . . . . . g.7223
GTGGAGATGGACATGTCTAAGCCAGACCTCACTGCCGCCCTCAGGGACATCCGGGCTCAG c.840
V E M D M S K P D L T A A L R D I R A Q p.280
. . . . . | 05. g.7454
TATGAGACCATCGCGGCTAAGAACATTTCTGAAGCTGAGGAGTGGTACAAGTCGAAG | GTG c.900
Y E T I A A K N I S E A E E W Y K S K | V p.300
. . . . . . g.7514
TCAGACCTGACCCAGGCAGCCAACAAGAACAACGACGCCCTGCGCCAGGCCAAGCAGGAG c.960
S D L T Q A A N K N N D A L R Q A K Q E p.320
. . . . . . g.7574
ATGATGGAATACCGACACCAGATCCAGTCCTACACCTGCGAGATTGACGCCCTGAAGGGC c.1020
M M E Y R H Q I Q S Y T C E I D A L K G p.340
| 06 . . . . . . g.8020
ACT | AACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGTGAGGCC c.1080
T | N D S L M R Q M R E L E D R F A S E A p.360
. . . . . . g.8080
AGTGGCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGAG c.1140
S G Y Q D N I A R L E E E I R H L K D E p.380
. . . . . . g.8140
ATGGCCCGCCATCTGCGCGAGTACCAGGACCTGCTCAACGTGAAGATGGCCCTGGATGTG c.1200
M A R H L R E Y Q D L L N V K M A L D V p.400
. . . . | 07 . . g.10416
GAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCG | GATCAATCTCCCCATC c.1260
E I A T Y R K L L E G E E S R | I N L P I p.420
. . | 08 . . . g.12318
CAGACCTACTCTGCCCTCAACTTCCGAG | AAACCAGCCCTGAGCAAAGGGGTTCTGAGGTC c.1320
Q T Y S A L N F R E | T S P E Q R G S E V p.440
. . . . . | 09 . g.12581
CATACCAAGAAGACGGTGATGATCAAGACCATCGAGACACGGGATGGGGAG | GTCGTCAGT c.1380
H T K K T V M I K T I E T R D G E | V V S p.460
. . . g.12614
GAGGCCACACAGCAGCAGCATGAAGTGCTCTAA c.1413
E A T Q Q Q H E V L X p.470
. . . . . . g.12674
agacagagaccctctgccaccagagaccgtcctcacccctgtcctcactgctccctgaag c.*60
. . . . . . g.12734
ccagccttcttccatcccaggacaccacacccagcctcagtcctcccctcacagcctctg c.*120
. . . . . . g.12794
acccctcctcactggccatccctcgtggtccccaacagcgacatagcccatccctgcctg c.*180
. . . . . . g.12854
gtcacagggcatgccccggccacctctgcggaccccagctgtgagccttggctgttggca c.*240
. . . . . . g.12914
gtgagtgagcctggctcttgtgctggatggagcccaggcgggagcggtggccctgtccct c.*300
. . . . . . g.12974
cccacctctgtgacctcaggcactagcctttggctctggagacagccccagagcagggtg c.*360
. . . . . . g.13034
ttgggatactgcagggccaggactgagccccgcagacctccccagcccctagcccaggag c.*420
. . . . . . g.13094
agagaaagccaggcaggtagccagggggactagcccctgtggagactggggggcttgaaa c.*480
. . . . . . g.13154
ttgtccccgtggtctcttactttcctttccccagcccagggtggacttagaaagcagggg c.*540
. . . . . . g.13214
ctacaagagggaatccccgaaggtgctggaggtgggagcaggagattgagaaggagagaa c.*600
. . . . . . g.13274
agtgggtgagatgctggagaagagaggagaggagagaggcagagagcggtctcaggctgg c.*660
. . . . . . g.13334
tgggaggggcgcccacctccccacgccctcccctcccctgctgcaggggctctggagaga c.*720
. . g.13363
aacaataaagagattcacacacaagccaa c.*749
(downstream sequence)
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