(used for variant description)
(last modified April 20, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_004184.3 in the WARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering WARS transcript NM_004184.3.
(upstream sequence)
. . g.5774
tcgattctcaagagggtttca c.-361
. . . . . . g.5834
ttggtctcaacctggccccccaggcaacccacccctgattggacagtctcatcaagaagg c.-301
. . . . . . g.5894
ttggtcaagagctcaagtgtttctgagaatctgggtgatttataagaaacccttagctga c.-241
. . . . . . g.5954
atgcagggtggggagaacgaaagacaaaagcatcttttttcagaagggaaactgaaagaa c.-181
. . . . . . g.6014
agaggggaagagtattaaagaccatttctggctgggcagggcactctcagcagctcaact c.-121
. . . . . | 02 . g.12098
gcccagcgtgaccagtggccacctctgcagtgtcttccacaacctgg | tcttgactcgtct c.-61
. . . . . . g.12158
gctgaacaaatcctctgacctcaggccggctgtgaacgtagttcctgagagatagcaaac c.-1
. . . . . . g.12218
ATGCCCAACAGTGAGCCCGCATCTCTGCTGGAGCTGTTCAACAGCATCGCCACACAAGGG c.60
M P N S E P A S L L E L F N S I A T Q G p.20
. . . | 03 . . g.19443
GAGCTCGTAAGGTCCCTCAAAGCGGGAAATGCGTCAAAG | GATGAAATTGATTCTGCAGTA c.120
E L V R S L K A G N A S K | D E I D S A V p.40
. . . . . . g.19503
AAGATGTTGGTGTCATTAAAAATGAGCTACAAAGCTGCCGCGGGGGAGGATTACAAGGCT c.180
K M L V S L K M S Y K A A A G E D Y K A p.60
. . . . . . g.19563
GACTGTCCTCCAGGGAACCCAGCACCTACCAGTAATCATGGCCCAGATGCCACAGAAGCT c.240
D C P P G N P A P T S N H G P D A T E A p.80
. . . . . . g.19623
GAAGAGGATTTTGTGGACCCATGGACAGTACAGACAAGCAGTGCAAAAGGCATAGACTAC c.300
E E D F V D P W T V Q T S S A K G I D Y p.100
. | 04 . . . . . g.20728
GATAAGCTCATTG | TTCGGTTTGGAAGTAGTAAAATTGACAAAGAGCTAATAAACCGAATA c.360
D K L I V | R F G S S K I D K E L I N R I p.120
. . . . . . g.20788
GAGAGAGCCACCGGCCAAAGACCACACCACTTCCTGCGCAGAGGCATCTTCTTCTCACAC c.420
E R A T G Q R P H H F L R R G I F F S H p.140
| 05 . . . . . . g.26835
AG | AGATATGAATCAGGTTCTTGATGCCTATGAAAATAAGAAGCCATTTTATCTGTACACG c.480
R | D M N Q V L D A Y E N K K P F Y L Y T p.160
. . . . . . g.26895
GGCCGGGGCCCCTCTTCTGAAGCAATGCATGTAGGTCACCTCATTCCATTTATTTTCACA c.540
G R G P S S E A M H V G H L I P F I F T p.180
| 06 . . . . . . g.27532
AA | GTGGCTCCAGGATGTATTTAACGTGCCCTTGGTCATCCAGATGACGGATGACGAGAAG c.600
K | W L Q D V F N V P L V I Q M T D D E K p.200
. . . . . . g.27592
TATCTGTGGAAGGACCTGACCCTGGACCAGGCCTATAGCTATGCTGTGGAGAATGCCAAG c.660
Y L W K D L T L D Q A Y S Y A V E N A K p.220
. . . . . . g.27652
GACATCATCGCCTGTGGCTTTGACATCAACAAGACTTTCATATTCTCTGACCTGGACTAC c.720
D I I A C G F D I N K T F I F S D L D Y p.240
| 07 . . . . . . g.34552
ATGGG | GATGAGCTCAGGTTTCTACAAAAATGTGGTGAAGATTCAAAAGCATGTTACCTTC c.780
M G | M S S G F Y K N V V K I Q K H V T F p.260
. . . . | 08 . . g.37970
AACCAAGTGAAAGGCATTTTCGGCTTCACTGACAGCGACTGCATTG | GGAAGATCAGTTTT c.840
N Q V K G I F G F T D S D C I G | K I S F p.280
. . . . . . g.38030
CCTGCCATCCAGGCTGCTCCCTCCTTCAGCAACTCATTCCCACAGATCTTCCGAGACAGG c.900
P A I Q A A P S F S N S F P Q I F R D R p.300
. . . | 09 . . g.38793
ACGGATATCCAGTGCCTTATCCCATGTGCCATTGACCAG | GATCCTTACTTTAGAATGACA c.960
T D I Q C L I P C A I D Q | D P Y F R M T p.320
. . . . . . g.38853
AGGGACGTCGCCCCCAGGATCGGCTATCCTAAACCAGCCCTGCTGCACTCCACCTTCTTC c.1020
R D V A P R I G Y P K P A L L H S T F F p.340
. . . . . . g.38913
CCAGCCCTGCAGGGCGCCCAGACCAAAATGAGTGCCAGCGACCCCAACTCCTCCATCTTC c.1080
P A L Q G A Q T K M S A S D P N S S I F p.360
. . . | 10 . . . g.44168
CTCACCGACACGGCCAAGCAGATCAAAACCAAG | GTCAATAAGCATGCGTTTTCTGGAGGG c.1140
L T D T A K Q I K T K | V N K H A F S G G p.380
. . . . . . g.44228
AGAGACACCATCGAGGAGCACAGGCAGTTTGGGGGCAACTGTGATGTGGACGTGTCTTTC c.1200
R D T I E E H R Q F G G N C D V D V S F p.400
. . . . . | 11 . g.46313
ATGTACCTGACCTTCTTCCTCGAGGACGACGACAAGCTCGAGCAGATCAGGAAG | GATTAC c.1260
M Y L T F F L E D D D K L E Q I R K | D Y p.420
. . . . . . g.46373
ACCAGCGGAGCCATGCTCACCGGTGAGCTCAAGAAGGCACTCATAGAGGTTCTGCAGCCC c.1320
T S G A M L T G E L K K A L I E V L Q P p.440
. . . . . . g.46433
TTGATCGCAGAGCACCAGGCCCGGCGCAAGGAGGTCACGGATGAGATAGTGAAAGAGTTC c.1380
L I A E H Q A R R K E V T D E I V K E F p.460
. . . g.46469
ATGACTCCCCGGAAGCTGTCCTTCGACTTTCAGTAG c.1416
M T P R K L S F D F Q X p.471
. . . . . . g.46529
cactcgttttacatatgcttataaaagaagtgatgtatcagtaatgtatcaataatccca c.*60
. . . . . . g.46589
gcccagtcaaagcaccgccacctgtaggcttctgtctcatggtaattactgggcctggcc c.*120
. . . . . . g.46649
tctgtaagcctgtgtatgttatcaatactgtttcttcctgtgagttccattatttctatc c.*180
. . . . . . g.46709
tcttatgggcaaagcattgtgggtaattggtgctggctaacattgcatggtcggatagag c.*240
. . . . . . g.46769
aagtccagctgtgagtctctccccaaagcagccccacagtggagcctttggctggaagtc c.*300
. . . . . . g.46829
catgggccaccctgttcttgtccatggaggactccgagggttccaagtatactcttaaga c.*360
. . . . . . g.46889
cccactctgtttaaaaatatatattctatgtatgcgtatatggaattgaaatgtcattat c.*420
. . . . . . g.46949
tgtaacctagaaagtgctttgaaatattgatgtggggaggtttattgagcacaagatgta c.*480
. . . . . . g.47009
tttcagcccatgccccctcccaaaaagaaattgataagtaaaagcttcgttatacatttg c.*540
. . . . . . g.47069
actaagaaatcacccagctttaaagctgcttttaacaatgaagattgaacagagttcagc c.*600
. . . . . . g.47129
aattttgattaaattaagacttgggggtgaaactttccagtttactgaactccagaccat c.*660
. . . . . . g.47189
gcatgtagtccactccagaaatcatgctcgcttcccttggcacaccagtgttctcctgcc c.*720
. . . . . . g.47249
aaatgaccctagaccctctgtcctgcagagtcagggtggcttttcccctgactgtgtccg c.*780
. . . . . . g.47309
atgccaaggagtcctggcctccgcagatgcttcattttgacccttggctgcagtggaagt c.*840
. . . . . . g.47369
cagcacagagcagtgccctggctgtgtccctggacgggtggacttagctagggagaaagt c.*900
. . . . . . g.47429
cgaggcagcagccctcgaggccctcacagatgtctaggcaggcctcatttcatcacgcag c.*960
. . . . . . g.47489
catgtgcaggcctggaagagcaaagccaaatctcagggaagtccttggttgatgtatctg c.*1020
. . . . . . g.47549
ggtctcctctggagcactctgccctcctgtcacccagtagagtaaataaacttccttggc c.*1080
g.47556
tcctgct c.*1087
(downstream sequence)
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