(used for mutation description)
(last modified November 10, 2012)
This file was created to facilitate the description of sequence variants in the GARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007942.1, covering GARS transcript NM_002047.2.
(upstream sequence)
. . . . . g.5057
gtcactcgtataaaaacctatgctttgaaggttctcgtgtgtctcggcctgcaggtc c.-301
. . . . . . g.5117
tcgctcagagctgtgtccctgaacatccaccctgctggggtggcttgacgcacttctgtg c.-241
. . . . . . g.5177
caaatctgttcgctcgcaaccctacctacctctctcccgaaccggagaaaaccttcggcg c.-181
. . . . . . g.5237
gggtccttccgggttttgtgtcgaatctgcggcggcgacccggcgccgcgtcacgcggtg c.-121
. . . . . . g.5297
gtgaatgtgcggcagcacgcgcgccgcgtcgtttacgcggcgatttcatcatgctccgag c.-61
. . . . . . g.5357
ccgggcggcgcgcgccgcttccgtcgccaccctctctggacagcccagggccgcaggctc c.-1
. . . . . . g.5417
ATGCCCTCTCCGCGTCCAGTGCTGCTTAGAGGTGCTCGCGCCGCTCTGCTGCTGCTGCTG c.60
M P S P R P V L L R G A R A A L L L L L p.20
. . . . . . g.5477
CCGCCCCGGCTCTTAGCCCGACCCTCGCTCCTGCTCCGCCGGTCCCTCAGCGCGGCCTCC c.120
P P R L L A R P S L L L R R S L S A A S p.40
. . . . . . g.5537
TGCCCCCCGATCTCCTTGCCCGCCGCCGCCTCCCGGAGCAGCATGGACGGCGCGGGGGCT c.180
C P P I S L P A A A S R S S M D G A G A p.60
. . . . | 02 . . g.9249
GAGGAGGTGCTGGCACCTCTGAGGCTAGCAGTGCGCCAGCAG | GGAGATCTTGTGCGAAAA c.240
E E V L A P L R L A V R Q Q | G D L V R K p.80
. . . . . . g.9309
CTCAAAGAAGATAAAGCACCCCAAGTAGACGTAGACAAAGCAGTGGCTGAGCTCAAAGCC c.300
L K E D K A P Q V D V D K A V A E L K A p.100
. . | 03 . . . . g.10418
CGCAAGAGGGTTCTGGAAGCAAAG | GAGCTGGCGTTACAGCCCAAAGATGATATTGTAGAC c.360
R K R V L E A K | E L A L Q P K D D I V D p.120
. . . . . . g.10478
CGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATGATCAAGCTTTTGCTATT c.420
R A K M E D T L K R R F F Y D Q A F A I p.140
| 04. . . . . . g.11547
TATGGAG | GTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCTTTGAAGAACAAT c.480
Y G G | V S G L Y D F G P V G C A L K N N p.160
. . . . . . g.11607
ATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATCCTGGAGATCGATTGC c.540
I I Q T W R Q H F I Q E E Q I L E I D C p.180
. . | 05 . . . g.13500
ACCATGCTCACCCCTGAGCCAGTTTTAAA | GACCTCTGGCCATGTAGACAAATTTGCTGAC c.600
T M L T P E P V L K | T S G H V D K F A D p.200
. . . . . | 06 g.13933
TTCATGGTGAAAGACGTAAAAAATGGAGAATGTTTTCGTGCTGACCATCTATTAAAAG | CT c.660
F M V K D V K N G E C F R A D H L L K A | p.220
. . . . . . g.13993
CATTTACAGAAATTGATGTCTGATAAGAAGTGTTCTGTCGAAAAGAAATCAGAAATGGAA c.720
H L Q K L M S D K K C S V E K K S E M E p.240
. | 07 . . . . . g.20065
AGTGTTTTGGCCCAG | CTTGATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAAC c.780
S V L A Q | L D N Y G Q Q E L A D L F V N p.260
. . . . . . g.20125
TATAATGTAAAATCTCCCATTACTGGAAATGATCTATCCCCTCCAGTGTCTTTTAACTTA c.840
Y N V K S P I T G N D L S P P V S F N L p.280
. . . . | 08 . . g.22550
ATGTTCAAGACTTTCATTGGGCCTGGAGGAAACATGCCTGG | GTACTTGAGACCAGAAACT c.900
M F K T F I G P G G N M P G | Y L R P E T p.300
. . . . . . g.22610
GCACAGGGGATTTTCTTGAATTTCAAACGACTTTTGGAGTTCAACCAAGGAAAGTTGCCT c.960
A Q G I F L N F K R L L E F N Q G K L P p.320
. . . . . . g.22670
TTTGCTGCTGCCCAGATTGGAAATTCTTTTAGAAATGAGATCTCCCCTCGATCTGGACTG c.1020
F A A A Q I G N S F R N E I S P R S G L p.340
. | 09 . . . . . g.26380
ATCAGAGTCAG | AGAATTCACAATGGCAGAAATTGAGCACTTTGTAGATCCCAGTGAGAAA c.1080
I R V R | E F T M A E I E H F V D P S E K p.360
. . . . . . g.26440
GACCACCCCAAGTTCCAGAATGTGGCAGACCTTCACCTTTATTTGTATTCAGCAAAAGCC c.1140
D H P K F Q N V A D L H L Y L Y S A K A p.380
. . . . . | 10 . g.27555
CAGGTCAGCGGACAGTCCGCTCGGAAAATGCGCCTGGGAGATGCTGTTGAACAG | GGTGTG c.1200
Q V S G Q S A R K M R L G D A V E Q | G V p.400
. . . . . . g.27615
ATTAATAACACAGTATTAGGCTATTTCATTGGCCGCATCTACCTCTACCTCACGAAGGTT c.1260
I N N T V L G Y F I G R I Y L Y L T K V p.420
. . . . . . g.27675
GGAATATCTCCAGATAAACTCCGCTTCCGGCAGCACATGGAGAATGAGATGGCCCATTAT c.1320
G I S P D K L R F R Q H M E N E M A H Y p.440
. . . | 11 . . g.31849
GCCTGTGACTGTTGGGATGCAGAATCCAAAACATCCTAC | GGTTGGATTGAGATTGTTGGA c.1380
A C D C W D A E S K T S Y | G W I E I V G p.460
. . . . . . g.31909
TGTGCTGATCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCAAAGTCCCACTT c.1440
C A D R S C Y D L S C H A R A T K V P L p.480
. . | 12. . . . g.32785
GTAGCTGAGAAACCTCTGAAAGAACCC | AAAACAGTCAATGTTGTTCAGTTTGAACCCAGT c.1500
V A E K P L K E P | K T V N V V Q F E P S p.500
. . . . . . g.32845
AAGGGAGCAATTGGTAAGGCATATAAGAAGGATGCAAAACTGGTGATGGAGTATCTTGCC c.1560
K G A I G K A Y K K D A K L V M E Y L A p.520
. . . . . | 13 . g.36676
ATTTGTGATGAGTGCTACATTACAGAAATGGAGATGCTGCTGAATGAGAAAGG | GGAATTC c.1620
I C D E C Y I T E M E M L L N E K G | E F p.540
. . . . . . g.36736
ACAATTGAAACTGAAGGGAAAACATTTCAGTTAACAAAAGACATGATCAATGTGAAGAGA c.1680
T I E T E G K T F Q L T K D M I N V K R p.560
. | 14 . . . . g.39036
TTCCAGAAAACACTATATG | TGGAAGAAGTTGTTCCGAATGTAATTGAACCTTCCTTCGGC c.1740
F Q K T L Y V | E E V V P N V I E P S F G p.580
. . . . . . g.39096
CTGGGTAGGATCATGTATACGGTATTTGAACATACATTCCATGTACGAGAAGGAGATGAA c.1800
L G R I M Y T V F E H T F H V R E G D E p.600
| 15 . . . . . g.41934
CAGAGAACA | TTCTTCAGTTTCCCTGCTGTAGTTGCTCCATTCAAATGTTCCGTCCTCCCA c.1860
Q R T | F F S F P A V V A P F K C S V L P p.620
. . . . | 16 . . g.42699
CTGAGCCAAAACCAGGAGTTCATGCCATTTGTCAAGGAATTAT | CGGAAGCCCTGACCAGG c.1920
L S Q N Q E F M P F V K E L S | E A L T R p.640
. . . . . . g.42759
CATGGAGTATCTCACAAAGTAGACGATTCCTCTGGGTCAATCGGAAGGCGCTATGCCAGG c.1980
H G V S H K V D D S S G S I G R R Y A R p.660
. . . . . . g.42819
ACTGATGAGATTGGCGTGGCTTTTGGTGTCACCATTGACTTTGACACAGTGAACAAGACC c.2040
T D E I G V A F G V T I D F D T V N K T p.680
. . . . . | 17 . g.44176
CCCCACACTGCAACTCTGAGGGACCGTGACTCAATGCGGCAGATAAGAGCAGAG | ATCTCT c.2100
P H T A T L R D R D S M R Q I R A E | I S p.700
. . . . . . g.44236
GAGCTGCCCAGCATAGTCCAAGACCTAGCCAATGGCAACATCACATGGGCTGATGTGGAG c.2160
E L P S I V Q D L A N G N I T W A D V E p.720
. . . . . . g.44296
GCCAGGTATCCTCTGTTTGAAGGGCAAGAGACTGGTAAAAAAGAGACAATCGAGGAATGA c.2220
A R Y P L F E G Q E T G K K E T I E E X p.739
. . . . . . g.44356
ggacaattttgacaacttttgaccacttgcgctaataaaaaaaaaaaaaaactactctta c.*60
. . . . . . g.44416
tgtccactttacaaaagaaaacagcattgtgattactcccagggaccgtattttatcttc c.*120
. . . . . g.44469
agtggctgcctgattttacccccacaattaaagttgaaggaatcctgaacaaa c.*173
(downstream sequence)
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