(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001605.2 in the AARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023191.1, covering AARS transcript NM_001605.2.
(upstream sequence)
. . . . . g.5050
ggtacagctgcgcgtctgcgggaataggtgcagcgggcccttggcggggg c.-61
. . . . | 02 . g.11746
actctgagggaggagctggggacggcgaccctaggagag | ttctttggggtgactttcaag c.-1
. . . . . . g.11806
ATGGACTCTACTCTAACAGCAAGTGAAATCCGGCAGCGATTTATAGATTTCTTCAAGAGG c.60
M D S T L T A S E I R Q R F I D F F K R p.20
. . . . . . g.11866
AACGAGCATACGTATGTTCACTCGTCTGCCACCATCCCATTGGATGACCCCACTTTGCTC c.120
N E H T Y V H S S A T I P L D D P T L L p.40
. . | 03 . . . . g.17391
TTTGCCAATGCAGGCATGAACCAG | TTTAAACCCATTTTCCTGAACACAATTGACCCATCT c.180
F A N A G M N Q | F K P I F L N T I D P S p.60
. . . . . . g.17451
CACCCCATGGCAAAGCTGAGCAGAGCTGCCAATACCCAGAAGTGCATCCGGGCTGGGGGC c.240
H P M A K L S R A A N T Q K C I R A G G p.80
. . . . . . g.17511
AAACATAATGACCTGGACGATGTGGGCAAGGATGTCTATCATCACACCTTCTTCGAGATG c.300
K H N D L D D V G K D V Y H H T F F E M p.100
. . . | 04 . . . g.17905
CTGGGCTCTTGGTCTTTTGGAGATTACTTTAAG | GAATTGGCATGTAAGATGGCTCTGGAA c.360
L G S W S F G D Y F K | E L A C K M A L E p.120
. . . . . . g.17965
CTCCTCACCCAAGAGTTTGGCATTCCCATTGAAAGACTTTATGTTACTTACTTTGGCGGG c.420
L L T Q E F G I P I E R L Y V T Y F G G p.140
. . . . . | 05 g.22538
GATGAAGCAGCTGGCTTAGAAGCAGATCTGGAATGCAAACAGATCTGGCAAAATTTGGG | G c.480
D E A A G L E A D L E C K Q I W Q N L G | p.160
. . . . . . g.22598
CTGGATGACACCAAAATCCTCCCAGGCAACATGAAGGATAACTTCTGGGAGATGGGTGAC c.540
L D D T K I L P G N M K D N F W E M G D p.180
. . . . . . g.22658
ACGGGCCCCTGTGGTCCTTGCAGTGAGATCCACTACGACCGGATTGGTGGTCGGGACGCC c.600
T G P C G P C S E I H Y D R I G G R D A p.200
. . . . . . g.22718
GCACATCTTGTCAACCAGGACGACCCTAATGTGCTGGAGATCTGGAACCTTGTGTTCATC c.660
A H L V N Q D D P N V L E I W N L V F I p.220
. | 06 . . . . . g.24218
CAGTATAACAG | GGAAGCTGATGGCATTCTGAAACCTCTTCCCAAGAAAAGCATTGACACA c.720
Q Y N R | E A D G I L K P L P K K S I D T p.240
. . . . . . g.24278
GGGATGGGCCTGGAACGACTGGTATCTGTGCTGCAGAATAAGATGTCCAACTATGACACT c.780
G M G L E R L V S V L Q N K M S N Y D T p.260
. . . | 07 . . . g.24770
GACCTTTTTGTCCCTTACTTTGAAGCCATTCAGAAG | GGCACAGGTGCCCGACCATACACT c.840
D L F V P Y F E A I Q K | G T G A R P Y T p.280
. . . . . . g.24830
GGGAAAGTTGGTGCTGAGGATGCCGATGGGATTGACATGGCCTACCGGGTGCTGGCTGAC c.900
G K V G A E D A D G I D M A Y R V L A D p.300
. . . . . . g.24890
CACGCTCGGACCATCACTGTGGCACTGGCTGATGGTGGCCGGCCTGACAACACAGGGCGT c.960
H A R T I T V A L A D G G R P D N T G R p.320
| 08 . . . . . . g.26188
GG | ATATGTGTTGAGACGGATTCTCCGCCGAGCTGTCCGATACGCCCATGAAAAGCTCAAT c.1020
G | Y V L R R I L R R A V R Y A H E K L N p.340
. . . . . | 09 . g.26709
GCCAGCAGGGGCTTCTTTGCTACGTTAGTGGATGTTGTCGTCCAGTCCCTG | GGAGATGCA c.1080
A S R G F F A T L V D V V V Q S L | G D A p.360
. . . . . . g.26769
TTTCCTGAGCTGAAGAAGGACCCAGACATGGTGAAGGACATCATTAATGAAGAAGAGGTG c.1140
F P E L K K D P D M V K D I I N E E E V p.380
. . . . . . g.26829
CAGTTTCTCAAGACTCTCAGCAGAGGGCGTCGCATCCTGGACAGGAAAATTCAGAGCCTG c.1200
Q F L K T L S R G R R I L D R K I Q S L p.400
. . | 10 . . . . g.28885
GGAGACAGCAAGACCATTCCCG | GAGACACTGCTTGGCTCCTCTATGACACCTATGGGTTT c.1260
G D S K T I P G | D T A W L L Y D T Y G F p.420
. . . . . . g.28945
CCAGTGGATCTGACTGGACTGATTGCTGAAGAGAAGGGCCTGGTGGTAGACATGGATGGC c.1320
P V D L T G L I A E E K G L V V D M D G p.440
. . | 11. . . . g.29440
TTTGAAGAGGAGAGGAAACTGGCCCAG | CTGAAATCACAGGGCAAGGGAGCTGGTGGGGAA c.1380
F E E E R K L A Q | L K S Q G K G A G G E p.460
. . . . . . g.29500
GACCTCATTATGCTGGACATTTACGCTATCGAAGAGCTCCGGGCACGGGGTCTGGAGGTC c.1440
D L I M L D I Y A I E E L R A R G L E V p.480
. . . . . | 12 . g.31993
ACAGATGATTCCCCAAAGTACAATTACCATTTGGACTCCAGTGGTAGCTATG | TATTTGAG c.1500
T D D S P K Y N Y H L D S S G S Y V | F E p.500
. . . . . . g.32053
AACACAGTGGCTACGGTGATGGCTCTGCGCAGGGAGAAGATGTTCGTGGAAGAGGTGTCC c.1560
N T V A T V M A L R R E K M F V E E V S p.520
. . . . . . g.32113
ACAGGCCAGGAGTGTGGAGTGGTGCTGGACAAGACCTGTTTCTATGCTGAGCAAGGAGGC c.1620
T G Q E C G V V L D K T C F Y A E Q G G p.540
. . . . . | 13 . g.33361
CAGATCTATGACGAAGGCTACCTGGTGAAGGTGGATGACAGCAGTGAAGAT | AAAACAGAG c.1680
Q I Y D E G Y L V K V D D S S E D | K T E p.560
. . . . . . g.33421
TTTACAGTGAAGAATGCTCAGGTCCGAGGAGGGTATGTGCTACACATTGGAACCATCTAC c.1740
F T V K N A Q V R G G Y V L H I G T I Y p.580
. . . . | 14 . . g.35338
GGTGACCTGAAAGTGGGGGATCAGGTCTGGCTGTTTATTGATGAG | CCCCGACGAAGACCC c.1800
G D L K V G D Q V W L F I D E | P R R R P p.600
. . . . . . g.35398
ATCATGAGCAACCACACAGCTACGCACATTCTGAACTTCGCCCTGCGCTCAGTGCTTGGG c.1860
I M S N H T A T H I L N F A L R S V L G p.620
. . . . . . g.35458
GAAGCTGACCAGAAAGGCTCATTGGTTGCTCCTGACCGCCTCAGATTTGACTTTACTGCC c.1920
E A D Q K G S L V A P D R L R F D F T A p.640
. . . . . . g.35518
AAGGGAGCCATGTCCACCCAACAGATCAAGAAGGCTGAAGAGATTGCTAATGAGATGATT c.1980
K G A M S T Q Q I K K A E E I A N E M I p.660
. | 15 . . . . . g.36340
GAGGCAGCCAAG | GCCGTCTATACCCAGGATTGCCCCCTGGCAGCAGCGAAAGCCATCCAG c.2040
E A A K | A V Y T Q D C P L A A A K A I Q p.680
. . . . . . g.36400
GGCCTACGGGCTGTGTTTGATGAGACCTATCCTGACCCTGTGCGAGTCGTCTCCATTGGG c.2100
G L R A V F D E T Y P D P V R V V S I G p.700
. . . . . . g.36460
GTCCCGGTGTCCGAGTTGCTGGATGACCCCTCTGGGCCTGCTGGCTCCCTGACTTCTGTT c.2160
V P V S E L L D D P S G P A G S L T S V p.720
. | 16. . . . . g.38716
GAGTTCTGTGGGGGAAC | GCACCTGCGGAACTCGAGTCATGCAGGAGCTTTTGTGATCGTG c.2220
E F C G G T | H L R N S S H A G A F V I V p.740
. . . . . . g.38776
ACGGAAGAAGCCATTGCCAAGGGTATCCGGAGGATTGTGGCTGTCACAGGTGCCGAGGCC c.2280
T E E A I A K G I R R I V A V T G A E A p.760
| 17 . . . . . . g.39829
CAGAAG | GCCCTCAGGAAAGCAGAGAGCTTGAAGAAATGTCTCTCTGTCATGGAAGCCAAA c.2340
Q K | A L R K A E S L K K C L S V M E A K p.780
. . . . . . g.39889
GTGAAGGCTCAGACTGCTCCAAACAAGGATGTGCAGAGGGAGATCGCTGACCTTGGAGAG c.2400
V K A Q T A P N K D V Q R E I A D L G E p.800
| 18 . . . . . . g.40531
| GCCCTGGCCACTGCAGTCATCCCCCAGTGGCAGAAGGATGAATTGCGGGAGACTCTCAAA c.2460
| A L A T A V I P Q W Q K D E L R E T L K p.820
. . . . . . g.40591
TCCCTAAAGAAGGTCATGGATGACTTGGACCGAGCCAGCAAAGCCGATGTCCAGAAACGA c.2520
S L K K V M D D L D R A S K A D V Q K R p.840
| 19 . . . . . . g.40769
| GTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTG c.2580
| V L E K T K Q F I D S N P N Q P L V I L p.860
. . | 20. . . . g.41161
GAGATGGAGAGCGGCGCCTCAGCCAAG | GCCCTGAATGAAGCCTTGAAGCTCTTCAAGATG c.2640
E M E S G A S A K | A L N E A L K L F K M p.880
. . . . . . g.41221
CACTCCCCTCAGACTTCTGCCATGCTCTTCACGGTGGACAATGAGGCTGGCAAGATCACG c.2700
H S P Q T S A M L F T V D N E A G K I T p.900
. . | 21 . . . . g.41642
TGCCTGTGTCAAGTTCCCCAG | AATGCAGCCAATCGGGGCTTAAAAGCCAGCGAGTGGGTG c.2760
C L C Q V P Q | N A A N R G L K A S E W V p.920
. . . . . . g.41702
CAGCAGGTGTCAGGCTTGATGGACGGTAAAGGTGGTGGCAAGGATGTGTCTGCACAGGCC c.2820
Q Q V S G L M D G K G G G K D V S A Q A p.940
. . . . . . g.41762
ACAGGCAAGAACGTTGGCTGCCTGCAGGAGGCGCTGCAGCTGGCCACTTCCTTCGCCCAG c.2880
T G K N V G C L Q E A L Q L A T S F A Q p.960
. . g.41789
CTGCGCCTCGGGGATGTAAAGAACTGA c.2907
L R L G D V K N X p.968
. . . . . . g.41849
gtggggaaggaggaggctcccactggatccatccgtccagccaagagctcttcatctgct c.*60
. . . . . . g.41909
acaagaacatttgaatcttgggacctttaaagagcccctcctaacccagcagtaactgga c.*120
. . . . . . g.41969
acacacttgggagcagtcctatgtctcagtgccccttaaatttctgccctgagccctcca c.*180
. . . . . . g.42029
cgtcagtgccatcggtctagaaccactaaccccgcattgctgttgatcgtcacgctcgca c.*240
. . . . . . g.42089
tctatagataacggctctccagacctgagctttccgcgtcagcaagtaggaatcgttttt c.*300
. . g.42116
gctgcagagaataaaaggaccacgtgc c.*327
(downstream sequence)
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