(used for variant description)
(last modified November 19, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_004409.3 in the DMPK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009784.1, covering DMPK transcript NM_004409.3.
(upstream sequence)
. . g.5025
aggggggctggaccaaggggtgggg c.-181
. . . . . . g.5085
agaaggggaggaggcctcggccggccgcagagagaagtggccagagaggcccaggggaca c.-121
. . . . . . g.5145
gccagggacaggcagacatgcagccagggctccagggcctggacaggggctgccaggccc c.-61
. . . . . . g.5205
tgtgacaggaggaccccgagcccccggcccggggaggggccatggtgctgcctgtccaac c.-1
. . . . . . g.5265
ATGTCAGCCGAGGTGCGGCTGAGGCGGCTCCAGCAGCTGGTGTTGGACCCGGGCTTCCTG c.60
M S A E V R L R R L Q Q L V L D P G F L p.20
. . . . . . g.5325
GGGCTGGAGCCCCTGCTCGACCTTCTCCTGGGCGTCCACCAGGAGCTGGGCGCCTCCGAA c.120
G L E P L L D L L L G V H Q E L G A S E p.40
. . . . | 02 . . g.7708
CTGGCCCAGGACAAGTACGTGGCCGACTTCTTGCAGTGGG | CGGAGCCCATCGTGGTGAGG c.180
L A Q D K Y V A D F L Q W A | E P I V V R p.60
. . . . . . g.7768
CTTAAGGAGGTCCGACTGCAGAGGGACGACTTCGAGATTCTGAAGGTGATCGGACGCGGG c.240
L K E V R L Q R D D F E I L K V I G R G p.80
. | 03 . . . . . g.8083
GCGTTCAGCGAG | GTAGCGGTAGTGAAGATGAAGCAGACGGGCCAGGTGTATGCCATGAAG c.300
A F S E | V A V V K M K Q T G Q V Y A M K p.100
. . . | 04 . . . g.8222
ATCATGAACAAGTGGGACATGCTGAAGAGGGGCGAG | GTGTCGTGCTTCCGTGAGGAGAGG c.360
I M N K W D M L K R G E | V S C F R E E R p.120
. . . . . . g.8282
GACGTGTTGGTGAATGGGGACCGGCGGTGGATCACGCAGCTGCACTTCGCCTTCCAGGAT c.420
D V L V N G D R R W I T Q L H F A F Q D p.140
. | 05 . . . . . g.8964
GAGAACTACCTG | TACCTGGTCATGGAGTATTACGTGGGCGGGGACCTGCTGACACTGCTG c.480
E N Y L | Y L V M E Y Y V G G D L L T L L p.160
. . . . . . g.9024
AGCAAGTTTGGGGAGCGGATTCCGGCCGAGATGGCGCGCTTCTACCTGGCGGAGATTGTC c.540
S K F G E R I P A E M A R F Y L A E I V p.180
. . . . | 06 . . g.9356
ATGGCCATAGACTCGGTGCACCGGCTTGGCTACGTGCACAG | GGACATCAAACCCGACAAC c.600
M A I D S V H R L G Y V H R | D I K P D N p.200
. . . . . . g.9416
ATCCTGCTGGACCGCTGTGGCCACATCCGCCTGGCCGACTTCGGCTCTTGCCTCAAGCTG c.660
I L L D R C G H I R L A D F G S C L K L p.220
. | 07 . . . . . g.9729
CGGGCAGATGGAACG | GTGCGGTCGCTGGTGGCTGTGGGCACCCCAGACTACCTGTCCCCC c.720
R A D G T | V R S L V A V G T P D Y L S P p.240
. . . . . . g.9789
GAGATCCTGCAGGCTGTGGGCGGTGGGCCTGGGACAGGCAGCTACGGGCCCGAGTGTGAC c.780
E I L Q A V G G G P G T G S Y G P E C D p.260
. . . . . . g.9849
TGGTGGGCGCTGGGTGTATTCGCCTATGAAATGTTCTATGGGCAGACGCCCTTCTACGCG c.840
W W A L G V F A Y E M F Y G Q T P F Y A p.280
. . . . | 08 . . g.9985
GATTCCACGGCGGAGACCTATGGCAAGATCGTCCACTACAAG | GAGCACCTCTCTCTGCCG c.900
D S T A E T Y G K I V H Y K | E H L S L P p.300
. . . . . . g.10045
CTGGTGGACGAAGGGGTCCCTGAGGAGGCTCGAGACTTCATTCAGCGGTTGCTGTGTCCC c.960
L V D E G V P E E A R D F I Q R L L C P p.320
. . . . . . g.10105
CCGGAGACACGGCTGGGCCGGGGTGGAGCAGGCGACTTCCGGACACATCCCTTCTTCTTT c.1020
P E T R L G R G G A G D F R T H P F F F p.340
. . . . . . g.10165
GGCCTCGACTGGGATGGTCTCCGGGACAGCGTGCCCCCCTTTACACCGGATTTCGAAGGT c.1080
G L D W D G L R D S V P P F T P D F E G p.360
. . . . . . g.10225
GCCACCGACACATGCAACTTCGACTTGGTGGAGGACGGGCTCACTGCCATGGTGAGCGGG c.1140
A T D T C N F D L V E D G L T A M V S G p.380
| 09 . . . . . . g.12577
GGCGGG | GAGACACTGTCGGACATTCGGGAAGGTGCGCCGCTAGGGGTCCACCTGCCTTTT c.1200
G G | E T L S D I R E G A P L G V H L P F p.400
. . . | 10 . . . g.14833
GTGGGCTACTCCTACTCCTGCATGGCCCTCAG | GGACAGTGAGGTCCCAGGCCCCACACCC c.1260
V G Y S Y S C M A L R | D S E V P G P T P p.420
. . . . . . g.14893
ATGGAACTGGAGGCCGAGCAGCTGCTTGAGCCACACGTGCAAGCGCCCAGCCTGGAGCCC c.1320
M E L E A E Q L L E P H V Q A P S L E P p.440
. . | 11 . . . . g.15665
TCGGTGTCCCCACAGGATGAAACA | GCTGAAGTGGCAGTTCCAGCGGCTGTCCCTGCGGCA c.1380
S V S P Q D E T | A E V A V P A A V P A A p.460
. . . . . . g.15725
GAGGCTGAGGCCGAGGTGACGCTGCGGGAGCTCCAGGAAGCCCTGGAGGAGGAGGTGCTC c.1440
E A E A E V T L R E L Q E A L E E E V L p.480
. . . . . . g.15785
ACCCGGCAGAGCCTGAGCCGGGAGATGGAGGCCATCCGCACGGACAACCAGAACTTCGCC c.1500
T R Q S L S R E M E A I R T D N Q N F A p.500
| 12 . . . . . . g.15950
AG | TCAACTACGCGAGGCAGAGGCTCGGAACCGGGACCTAGAGGCACACGTCCGGCAGTTG c.1560
S | Q L R E A E A R N R D L E A H V R Q L p.520
. . . . | 13 . . g.16181
CAGGAGCGGATGGAGTTGCTGCAGGCAGAGGGAGCCACAG | CTGTCACGGGGGTCCCCAGT c.1620
Q E R M E L L Q A E G A T A | V T G V P S p.540
. . | 14. . . . g.16530
CCCCGGGCCACGGATCCACCTTCCCAT | CTAGATGGCCCCCCGGCCGTGGCTGTGGGCCAG c.1680
P R A T D P P S H | L D G P P A V A V G Q p.560
. . . . . | 15. g.16920
TGCCCGCTGGTGGGGCCAGGCCCCATGCACCGCCGCCACCTGCTGCTCCCTGCCAGG | GTC c.1740
C P L V G P G P M H R R H L L L P A R | V p.580
. . . . . . g.16980
CCTAGGCCTGGCCTATCGGAGGCGCTTTCCCTGCTCCTGTTCGCCGTTGTTCTGTCTCGT c.1800
P R P G L S E A L S L L L F A V V L S R p.600
. . . . . . g.17040
GCCGCCGCCCTGGGCTGCATTGGGTTGGTGGCCCACGCCGGCCAACTCACCGCAGTCTGG c.1860
A A A L G C I G L V A H A G Q L T A V W p.620
. . . g.17070
CGCCGCCCAGGAGCCGCCCGCGCTCCCTGA c.1890
R R P G A A R A P X p.629
. . . . . . g.17130
accctagaactgtcttcgactccggggccccgttggaagactgagtgcccggggcacggc c.*60
. . . . . . g.17190
acagaagccgcgcccaccgcctgccagttcacaaccgctccgagcgtgggtctccgccca c.*120
. . . . . . g.17250
gctccagtcctgtgatccgggcccgccccctagcggccggggagggaggggccgggtccg c.*180
. . . . . . g.17310
cggccggcgaacggggctcgaagggtccttgtagccgggaatgctgctgctgctgctgct c.*240
. . . . . . g.17370
gctgctgctgctgctgctgctgctgctgctgctgctgctgctggggggatcacagaccat c.*300
. . . . . . g.17430
ttctttctttcggccaggctgaggccctgacgtggatgggcaaactgcaggcctgggaag c.*360
. . . . . . g.17490
gcagcaagccgggccgtccgtgttccatcctccacgcacccccacctatcgttggttcgc c.*420
. . . . . . g.17550
aaagtgcaaagctttcttgtgcatgacgccctgctctggggagcgtctggcgcgatctct c.*480
. . . . . . g.17610
gcctgcttactcgggaaatttgcttttgccaaacccgctttttcggggatcccgcgcccc c.*540
. . . . . . g.17670
cctcctcacttgcgctgctctcggagccccagccggctccgcccgcttcggcggtttgga c.*600
. . . . . . g.17730
tatttattgacctcgtcctccgactcgctgacaggctacaggacccccaacaaccccaat c.*660
. . . . . . g.17790
ccacgttttggatgcactgagaccccgacattcctcggtatttattgtctgtccccacct c.*720
. . . . . g.17841
aggacccccacccccgaccctcgcgaataaaaggccctccatctgcccaaa c.*771
(downstream sequence)
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