(used for variant description)
(last modified March 11, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_005548.2 in the KARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering KARS transcript NM_005548.2.
(upstream sequence)
. . . . g.5048
aaattaacgtactatcctccttacttttgggtcgggccctccgggaag c.-1
. . . . . . g.5108
ATGGCGGCCGTGCAGGCGGCCGAGGTGAAAGTGGATGGCAGCGAGCCGAAACTGAGCAAG c.60
M A A V Q A A E V K V D G S E P K L S K p.20
| 02 . . . . . . g.11022
AA | TGAGCTGAAGAGACGCCTGAAAGCTGAGAAGAAAGTAGCAGAGAAGGAGGCCAAACAG c.120
N | E L K R R L K A E K K V A E K E A K Q p.40
. . . . . . g.11082
AAAGAGCTCAGTGAGAAACAGCTAAGCCAAGCCACTGCTGCTGCCACCAACCACACCACT c.180
K E L S E K Q L S Q A T A A A T N H T T p.60
. . . . | 03 . . g.12356
GATAATGGTGTGGGTCCTGAGGAAGAGAGCGTGGACCCAAAT | CAATACTACAAAATCCGC c.240
D N G V G P E E E S V D P N | Q Y Y K I R p.80
. . . . . . g.12416
AGTCAAGCAATTCATCAGCTGAAGGTCAATGGGGAAGACCCATACCCACACAAGTTCCAT c.300
S Q A I H Q L K V N G E D P Y P H K F H p.100
. . . . . . g.12476
GTAGACATCTCACTCACTGACTTCATCCAAAAATATAGTCACCTGCAGCCTGGGGATCAC c.360
V D I S L T D F I Q K Y S H L Q P G D H p.120
. . | 04 . . . g.16172
CTGACTGACATCACCTTAAAGGTGGCAG | GTAGGATCCATGCCAAAAGAGCTTCTGGGGGA c.420
L T D I T L K V A G | R I H A K R A S G G p.140
. . . . . . g.16232
AAGCTCATCTTCTATGATCTTCGAGGAGAGGGGGTGAAGTTGCAAGTCATGGCCAATTCC c.480
K L I F Y D L R G E G V K L Q V M A N S p.160
| 05 . . . . . . g.16647
AG | AAATTATAAATCAGAAGAAGAATTTATTCATATTAATAACAAACTGCGTCGGGGAGAC c.540
R | N Y K S E E E F I H I N N K L R R G D p.180
. . . . . . g.16707
ATAATTGGAGTTCAGGGGAATCCTGGTAAAACCAAGAAGGGTGAGCTGAGCATCATTCCG c.600
I I G V Q G N P G K T K K G E L S I I P p.200
. . . . . . g.16767
TATGAGATCACACTGCTGTCTCCCTGTTTGCATATGTTACCTCATCTTCACTTTGGCCTC c.660
Y E I T L L S P C L H M L P H L H F G L p.220
| 06 . . . . . g.16933
AAAGACAAG | GAAACAAGGTATCGCCAGAGATACTTGGACTTGATCCTGAATGACTTTGTG c.720
K D K | E T R Y R Q R Y L D L I L N D F V p.240
. . . . . . g.16993
AGGCAGAAATTTATCATCCGCTCTAAGATCATCACATATATAAGAAGTTTCTTAGATGAG c.780
R Q K F I I R S K I I T Y I R S F L D E p.260
. | 07 . . . . . g.18440
CTGGGATTCCTAGAG | ATTGAAACTCCCATGATGAACATCATCCCAGGGGGAGCCGTGGCC c.840
L G F L E | I E T P M M N I I P G G A V A p.280
. . . . . . g.18500
AAGCCTTTCATCACTTATCACAACGAGCTGGACATGAACTTATATATGAGAATTGCTCCA c.900
K P F I T Y H N E L D M N L Y M R I A P p.300
. | 08 . . . . . g.20877
GAACTCTATCATAAG | ATGCTTGTGGTTGGTGGCATCGACCGGGTTTATGAAATTGGACGC c.960
E L Y H K | M L V V G G I D R V Y E I G R p.320
. . . . . . g.20937
CAGTTCCGGAATGAGGGGATTGATTTGACGCACAATCCTGAGTTCACCACCTGTGAGTTC c.1020
Q F R N E G I D L T H N P E F T T C E F p.340
. . . . . | 09 g.21100
TACATGGCCTATGCAGACTATCACGATCTCATGGAAATCACGGAGAAGATGGTTTCAG | GG c.1080
Y M A Y A D Y H D L M E I T E K M V S G | p.360
. . . . . . g.21160
ATGGTGAAGCATATTACAGGCAGTTACAAGGTCACCTACCACCCAGATGGCCCAGAGGGC c.1140
M V K H I T G S Y K V T Y H P D G P E G p.380
. . . . . . g.21220
CAAGCCTACGATGTTGACTTCACCCCACCCTTCCGGCGAATCAACATGGTAGAAGAGCTT c.1200
Q A Y D V D F T P P F R R I N M V E E L p.400
. . . . . | 10 . g.21442
GAGAAAGCCCTGGGGATGAAGCTGCCAGAAACGAACCTCTTTGAAACTGAAG | AAACTCGC c.1260
E K A L G M K L P E T N L F E T E E | T R p.420
. . . . . . g.21502
AAAATTCTTGATGATATCTGTGTGGCAAAAGCTGTTGAATGCCCTCCACCTCGGACCACA c.1320
K I L D D I C V A K A V E C P P P R T T p.440
. | 11 . . . . g.22221
GCCAGGCTCCTTGACAAG | CTTGTTGGGGAGTTCCTGGAAGTGACTTGCATCAATCCTACA c.1380
A R L L D K | L V G E F L E V T C I N P T p.460
. . . . | 12 . . g.23162
TTCATCTGTGATCACCCACAGATAATGAGCCCTTTGGCTAAATG | GCACCGCTCTAAAGAG c.1440
F I C D H P Q I M S P L A K W | H R S K E p.480
. . . . . . g.23222
GGTCTGACTGAGCGCTTTGAGCTGTTTGTCATGAAGAAAGAGATATGCAATGCGTATACT c.1500
G L T E R F E L F V M K K E I C N A Y T p.500
. . . . . | 13 . g.23984
GAGCTGAATGATCCCATGCGGCAGCGGCAGCTTTTTGAAGAACAGGCCAAG | GCCAAGGCT c.1560
E L N D P M R Q R Q L F E E Q A K | A K A p.520
. . . . . . g.24044
GCAGGTGATGATGAGGCCATGTTCATAGATGAAAACTTCTGTACTGCCCTGGAATATGGG c.1620
A G D D E A M F I D E N F C T A L E Y G p.540
. . . . . . g.24104
CTGCCCCCCACAGCTGGCTGGGGCATGGGCATTGATCGAGTCGCCATGTTTCTCACGGAC c.1680
L P P T A G W G M G I D R V A M F L T D p.560
. | 14 . . . . . g.24739
TCCAACAACATCAAG | GAAGTACTTCTGTTTCCTGCCATGAAACCCGAAGACAAGAAGGAG c.1740
S N N I K | E V L L F P A M K P E D K K E p.580
. . . . . g.24793
AATGTAGCAACCACTGATACACTGGAAAGCACAACAGTTGGCACTTCTGTCTAG c.1794
N V A T T D T L E S T T V G T S V X p.597
. . . . . . g.24853
aaaataataattgcaagttgtataactcaggcgtctttgcatttctgcgaaagatcaagg c.*60
. . . . . . g.24913
tctgcaagggaattcttgtgtgctgctttccatttgacaccgcagttctgttcagccatc c.*120
. . . . . g.24964
agaagagagacaaggaattaaaaatttctttttaatcctgttaccaaataa c.*171
(downstream sequence)
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