(used for variant description)
(last modified February 10, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001349.2 in the DARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering DARS transcript NM_001349.2.
(upstream sequence)
g.5004
atct c.-181
. . . . . . g.5064
cgagatagccgcagctctcgcgatctttctggagccgcacctccacgcggagtccgagcg c.-121
. . . . . . g.5124
cgtgtgctgagaccccagggtcgggagggcggagactgggagggagggagaagccccttt c.-61
. . . . . . g.5184
ggcctgccttacggaagcctgcgagggagggtggtgtccactgcccagttccgtgtcccg c.-1
. . . . . . g.5244
ATGCCCAGCGCCAGCGCCAGCCGCAAGAGTCAGGAGAAGCCGCGGGAGATCATGGACGCG c.60
M P S A S A S R K S Q E K P R E I M D A p.20
| 02 . . . . . . g.7252
GCGGAA | GATTATGCTAAAGAGAGATATGGAATATCTTCAATGATACAATCACAAGAAAAA c.120
A E | D Y A K E R Y G I S S M I Q S Q E K p.40
| 03 . . . . . . g.11342
CCAG | ATCGAGTTTTGGTTCGGGTTAGAGACTTGACAATACAAAAAGCTGATGAAGTTGTT c.180
P D | R V L V R V R D L T I Q K A D E V V p.60
. . . | 04. . . g.29177
TGGGTACGTGCAAGAGTTCATACAAGCAGAGCTAAAG | GGAAACAGTGCTTCTTAGTCCTA c.240
W V R A R V H T S R A K G | K Q C F L V L p.80
. . . . . . g.29237
CGTCAGCAGCAGTTTAATGTCCAGGCTCTTGTGGCGGTGGGAGACCATGCAAGCAAGCAG c.300
R Q Q Q F N V Q A L V A V G D H A S K Q p.100
. . | 05 . . . . g.47212
ATGGTTAAATTTGCTGCCAA | CATCAACAAAGAGAGCATTGTGGATGTAGAAGGTGTTGTG c.360
M V K F A A N | I N K E S I V D V E G V V p.120
. . . . . . g.47272
AGAAAAGTGAATCAGAAAATTGGAAGCTGTACACAGCAAGACGTTGAGTTACATGTTCAG c.420
R K V N Q K I G S C T Q Q D V E L H V Q p.140
| 06 . . . . . . g.56719
AAG | ATTTATGTGATCAGTTTGGCTGAACCCCGTCTGCCCCTGCAGCTGGATGATGCTGTT c.480
K | I Y V I S L A E P R L P L Q L D D A V p.160
. . | 07 . . . . g.57846
CGGCCTGAGGCAGAAGGAGAAGAG | GAAGGAAGAGCTACTGTTAACCAGGATACAAGATTA c.540
R P E A E G E E | E G R A T V N Q D T R L p.180
. . | 08 . . . . g.66190
GACAACAGAGTCATTGATCTTAGG | ACATCAACTAGTCAGGCAGTCTTCCGTCTCCAGTCT c.600
D N R V I D L R | T S T S Q A V F R L Q S p.200
. . . . . . g.66250
GGCATCTGCCATCTCTTCCGAGAAACTTTAATTAACAAAGGTTTTGTGGAAATCCAAACT c.660
G I C H L F R E T L I N K G F V E I Q T p.220
. | 09 . . . . . g.67778
CCTAAAATTATTTCAG | CTGCCAGTGAAGGAGGAGCCAATGTTTTTACTGTGTCATATTTT c.720
P K I I S A | A S E G G A N V F T V S Y F p.240
. . . . . . g.67838
AAAAATAATGCATACCTGGCTCAGTCCCCACAGCTATATAAGCAAATGTGCATTTGTGCT c.780
K N N A Y L A Q S P Q L Y K Q M C I C A p.260
. . . | 10 . . . g.70081
GATTTTGAGAAGGTTTTCTCTATTGGACCAG | TATTCAGAGCGGAAGACTCTAATACCCAT c.840
D F E K V F S I G P V | F R A E D S N T H p.280
. . . . . . g.70141
AGACATCTAACTGAGTTTGTTGGTTTGGACATTGAAATGGCTTTTAATTACCATTACCAC c.900
R H L T E F V G L D I E M A F N Y H Y H p.300
. . . . . | 11 g.74281
GAAGTTATGGAAGAAATTGCTGACACCATGGTACAAATATTCAAAGGACTTCAAGAAAG | G c.960
E V M E E I A D T M V Q I F K G L Q E R | p.320
. . . . . . g.74341
TTTCAGACTGAAATTCAAACAGTGAATAAACAGTTCCCATGTGAGCCATTCAAATTTTTG c.1020
F Q T E I Q T V N K Q F P C E P F K F L p.340
. . . . . . g.74401
GAGCCAACTCTAAGACTAGAATATTGTGAAGCATTGGCTATGCTTAGGGAAGCTGGAGTC c.1080
E P T L R L E Y C E A L A M L R E A G V p.360
. . | 12 . . . . g.76175
GAAATGGGAGATGAAGACGATCTGAG | CACACCAAATGAAAAGCTGTTGGGTCATTTGGTA c.1140
E M G D E D D L S | T P N E K L L G H L V p.380
| 13 . . . . . g.78137
AAGGAAAAG | TATGATACAGATTTTTATATTCTTGATAAATATCCATTGGCTGTAAGACCT c.1200
K E K | Y D T D F Y I L D K Y P L A V R P p.400
. . . | 14 . . . g.79189
TTCTATACCATGCCTGACCCAAGAAATCCC | AAACAGTCCAACTCTTACGATATGTTCATG c.1260
F Y T M P D P R N P | K Q S N S Y D M F M p.420
. . . . . . g.79249
AGAGGAGAAGAAATATTGTCAGGAGCTCAAAGAATACATGATCCTCAACTGCTAACAGAG c.1320
R G E E I L S G A Q R I H D P Q L L T E p.440
. . | 15 . . . . g.79480
AGAGCTTTACATCATGGAATTG | ATTTGGAGAAAATTAAGGCTTACATTGATTCCTTCCGC c.1380
R A L H H G I D | L E K I K A Y I D S F R p.460
. . . | 16 . . . g.83271
TTTGGAGCCCCTCCTCATGCTGGTGGAGGCATTG | GATTGGAACGAGTTACTATGCTGTTT c.1440
F G A P P H A G G G I G | L E R V T M L F p.480
. . . . . . g.83331
CTGGGATTGCATAATGTTCGTCAGACCTCCATGTTCCCTCGTGATCCCAAACGACTCACT c.1500
L G L H N V R Q T S M F P R D P K R L T p.500
g.83337
CCTTAA c.1506
P X p.501
. . . . . . g.83397
attcacactttgccacttaactccagtgtggatgacagagcgagaccctgcctcaaaaaa c.*60
. . . . . . g.83457
aaaaaaaaaaaaagaaagccacacttattcttttcagtaacctgctagtgcacaggctgt c.*120
. . . . . . g.83517
actttaggtacttaaaatatgcactagaataaatttgcaaggccctaaaatatcactgtt c.*180
. . . . . . g.83577
atttttggagtaattcagtataggttcgtttaaaagagatttttataacttcagacatgc c.*240
. . . . . . g.83637
atcagtaggaaataacttgagaaattcatatggttatgttacaaattcatattctgttac c.*300
. . . . . . g.83697
tacagtaaacgttaagagttttaaacagttaagattgtacaatttttcttcttttctata c.*360
. . . . . . g.83757
ttacaagggccccagtgttaatgtcttagattttcagtatttgaacttatttttttaaat c.*420
. . . . . . g.83817
tctgtcattgagataagaataattcaggtagcatctgaaattttaatgaatgtataattg c.*480
. . . . . . g.83877
gcatatcatggaaaattaaccagaaagtatcagttcttaaaagttatgcctagaaattat c.*540
. . . . . . g.83937
gtaaagctaaactactggttagaaagtattcagtgtaatattgtattaatttgttaaatt c.*600
. . . g.83969
ctaaacttgaatttcaataaaattttaaagct c.*632
(downstream sequence)
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