(used for variant description)
(last modified August 31, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001130089.1 in the KARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028025.1, covering KARS transcript NM_001130089.1.
(upstream sequence)
. . g.5024
aaattaacgtactatcctccttac c.-121
. . . . . . g.5084
ttttgggtcgggccctccgggaagatggcggccgtgcaggcggccgaggtgaaagtggat c.-61
. . . | 02 . . . g.8259
ggcagcgagccgaaactgagcaagaa | gtggtggtaatcattagttccagggtgctctgcc c.-1
. . . . . . g.8319
ATGTTGACGCAAGCTGCTGTAAGGCTTGTTAGGGGGTCCCTGCGCAAAACCTCCTGGGCA c.60
M L T Q A A V R L V R G S L R K T S W A p.20
. . . . . . g.8379
GAGTGGGGTCACAGGGAACTGCGACTGGGTCAACTTGCTCCTTTCACAGCGCCTCACAAG c.120
E W G H R E L R L G Q L A P F T A P H K p.40
. . | 03 . . . . g.10998
GACAAGTCATTTTCTGATCAAAGAAG | TGAGCTGAAGAGACGCCTGAAAGCTGAGAAGAAA c.180
D K S F S D Q R S | E L K R R L K A E K K p.60
. . . . . . g.11058
GTAGCAGAGAAGGAGGCCAAACAGAAAGAGCTCAGTGAGAAACAGCTAAGCCAAGCCACT c.240
V A E K E A K Q K E L S E K Q L S Q A T p.80
. . . . . . g.11118
GCTGCTGCCACCAACCACACCACTGATAATGGTGTGGGTCCTGAGGAAGAGAGCGTGGAC c.300
A A A T N H T T D N G V G P E E E S V D p.100
| 04 . . . . . . g.12392
CCAAAT | CAATACTACAAAATCCGCAGTCAAGCAATTCATCAGCTGAAGGTCAATGGGGAA c.360
P N | Q Y Y K I R S Q A I H Q L K V N G E p.120
. . . . . . g.12452
GACCCATACCCACACAAGTTCCATGTAGACATCTCACTCACTGACTTCATCCAAAAATAT c.420
D P Y P H K F H V D I S L T D F I Q K Y p.140
. . . . . | 05 . g.16148
AGTCACCTGCAGCCTGGGGATCACCTGACTGACATCACCTTAAAGGTGGCAG | GTAGGATC c.480
S H L Q P G D H L T D I T L K V A G | R I p.160
. . . . . . g.16208
CATGCCAAAAGAGCTTCTGGGGGAAAGCTCATCTTCTATGATCTTCGAGGAGAGGGGGTG c.540
H A K R A S G G K L I F Y D L R G E G V p.180
. . | 06 . . . . g.16623
AAGTTGCAAGTCATGGCCAATTCCAG | AAATTATAAATCAGAAGAAGAATTTATTCATATT c.600
K L Q V M A N S R | N Y K S E E E F I H I p.200
. . . . . . g.16683
AATAACAAACTGCGTCGGGGAGACATAATTGGAGTTCAGGGGAATCCTGGTAAAACCAAG c.660
N N K L R R G D I I G V Q G N P G K T K p.220
. . . . . . g.16743
AAGGGTGAGCTGAGCATCATTCCGTATGAGATCACACTGCTGTCTCCCTGTTTGCATATG c.720
K G E L S I I P Y E I T L L S P C L H M p.240
. . . | 07 . . . g.16909
TTACCTCATCTTCACTTTGGCCTCAAAGACAAG | GAAACAAGGTATCGCCAGAGATACTTG c.780
L P H L H F G L K D K | E T R Y R Q R Y L p.260
. . . . . . g.16969
GACTTGATCCTGAATGACTTTGTGAGGCAGAAATTTATCATCCGCTCTAAGATCATCACA c.840
D L I L N D F V R Q K F I I R S K I I T p.280
. . . | 08 . . g.18416
TATATAAGAAGTTTCTTAGATGAGCTGGGATTCCTAGAG | ATTGAAACTCCCATGATGAAC c.900
Y I R S F L D E L G F L E | I E T P M M N p.300
. . . . . . g.18476
ATCATCCCAGGGGGAGCCGTGGCCAAGCCTTTCATCACTTATCACAACGAGCTGGACATG c.960
I I P G G A V A K P F I T Y H N E L D M p.320
. . . | 09 . . g.20853
AACTTATATATGAGAATTGCTCCAGAACTCTATCATAAG | ATGCTTGTGGTTGGTGGCATC c.1020
N L Y M R I A P E L Y H K | M L V V G G I p.340
. . . . . . g.20913
GACCGGGTTTATGAAATTGGACGCCAGTTCCGGAATGAGGGGATTGATTTGACGCACAAT c.1080
D R V Y E I G R Q F R N E G I D L T H N p.360
. . . . . . g.20973
CCTGAGTTCACCACCTGTGAGTTCTACATGGCCTATGCAGACTATCACGATCTCATGGAA c.1140
P E F T T C E F Y M A Y A D Y H D L M E p.380
. . | 10 . . . . g.21136
ATCACGGAGAAGATGGTTTCAG | GGATGGTGAAGCATATTACAGGCAGTTACAAGGTCACC c.1200
I T E K M V S G | M V K H I T G S Y K V T p.400
. . . . . . g.21196
TACCACCCAGATGGCCCAGAGGGCCAAGCCTACGATGTTGACTTCACCCCACCCTTCCGG c.1260
Y H P D G P E G Q A Y D V D F T P P F R p.420
. . . . . . g.21256
CGAATCAACATGGTAGAAGAGCTTGAGAAAGCCCTGGGGATGAAGCTGCCAGAAACGAAC c.1320
R I N M V E E L E K A L G M K L P E T N p.440
. | 11 . . . . . g.21478
CTCTTTGAAACTGAAG | AAACTCGCAAAATTCTTGATGATATCTGTGTGGCAAAAGCTGTT c.1380
L F E T E E | T R K I L D D I C V A K A V p.460
. . . . | 12 . . g.22197
GAATGCCCTCCACCTCGGACCACAGCCAGGCTCCTTGACAAG | CTTGTTGGGGAGTTCCTG c.1440
E C P P P R T T A R L L D K | L V G E F L p.480
. . . . . . g.22257
GAAGTGACTTGCATCAATCCTACATTCATCTGTGATCACCCACAGATAATGAGCCCTTTG c.1500
E V T C I N P T F I C D H P Q I M S P L p.500
| 13 . . . . . g.23198
GCTAAATG | GCACCGCTCTAAAGAGGGTCTGACTGAGCGCTTTGAGCTGTTTGTCATGAAG c.1560
A K W | H R S K E G L T E R F E L F V M K p.520
. . . . . . g.23258
AAAGAGATATGCAATGCGTATACTGAGCTGAATGATCCCATGCGGCAGCGGCAGCTTTTT c.1620
K E I C N A Y T E L N D P M R Q R Q L F p.540
. | 14 . . . . . g.24020
GAAGAACAGGCCAAG | GCCAAGGCTGCAGGTGATGATGAGGCCATGTTCATAGATGAAAAC c.1680
E E Q A K | A K A A G D D E A M F I D E N p.560
. . . . . . g.24080
TTCTGTACTGCCCTGGAATATGGGCTGCCCCCCACAGCTGGCTGGGGCATGGGCATTGAT c.1740
F C T A L E Y G L P P T A G W G M G I D p.580
. . . | 15 . . g.24715
CGAGTCGCCATGTTTCTCACGGACTCCAACAACATCAAG | GAAGTACTTCTGTTTCCTGCC c.1800
R V A M F L T D S N N I K | E V L L F P A p.600
. . . . . . g.24775
ATGAAACCCGAAGACAAGAAGGAGAATGTAGCAACCACTGATACACTGGAAAGCACAACA c.1860
M K P E D K K E N V A T T D T L E S T T p.620
. g.24793
GTTGGCACTTCTGTCTAG c.1878
V G T S V X p.625
. . . . . . g.24853
aaaataataattgcaagttgtataactcaggcgtctttgcatttctgcgaaagatcaagg c.*60
. . . . . . g.24913
tctgcaagggaattcttgtgtgctgctttccatttgacaccgcagttctgttcagccatc c.*120
. . . . . g.24964
agaagagagacaaggaattaaaaatttctttttaatcctgttaccaaataa c.*171
(downstream sequence)
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