(used for variant description)
(last modified February 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_138395.3 in the MARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering MARS2 transcript NM_138395.3.
(upstream sequence)
. . . . g.5042
attggctttccggccggaagctgcggcgcgacccggctgcgc c.-61
. . . . . . g.5102
atgcgcctctcacacgtgctgtcagaacgccgcctcctccgcttgcggccggtctgcacc c.-1
. . . . . . g.5162
ATGCTGCGAACGTCCGTCCTCCGCCTGCTAGGACGCACGGGGGCTAGTAGGCTGTCTCTC c.60
M L R T S V L R L L G R T G A S R L S L p.20
. . . . . . g.5222
CTGGAGGACTTCGGCCCACGCTACTACAGTTCGGGCTCCCTCAGTGCCGGCGATGATGCT c.120
L E D F G P R Y Y S S G S L S A G D D A p.40
. . . . . . g.5282
TGTGATGTGCGCGCCTACTTCACTACACCCATTTTCTACGTGAACGCGGCGCCGCACATC c.180
C D V R A Y F T T P I F Y V N A A P H I p.60
. . . . . . g.5342
GGGCACCTGTACTCGGCACTACTGGCGGACGCCCTATGCCGCCACCGTCGCCTCCGAGGT c.240
G H L Y S A L L A D A L C R H R R L R G p.80
. . . . . . g.5402
CCCAGCACGGCCGCCACGCGATTCTCCACTGGTACCGACGAGCACGGGCTGAAGATTCAG c.300
P S T A A T R F S T G T D E H G L K I Q p.100
. . . . . . g.5462
CAGGCAGCAGCTACCGCGGGCCTGGCCCCGACCGAGCTGTGCGACCGAGTCTCTGAGCAG c.360
Q A A A T A G L A P T E L C D R V S E Q p.120
. . . . . . g.5522
TTCCAGCAGCTTTTCCAGGAGGCCGGTATCTCCTGCACAGATTTCATCCGCACCACGGAG c.420
F Q Q L F Q E A G I S C T D F I R T T E p.140
. . . . . . g.5582
GCCCGGCACCGGGTGGCTGTGCAGCACTTCTGGGGGGTGCTTAAGTCCCGCGGTCTGCTC c.480
A R H R V A V Q H F W G V L K S R G L L p.160
. . . . . . g.5642
TACAAGGGCGTCTATGAAGGTTGGTATTGCGCTTCCGACGAGTGCTTCCTGCCTGAGGCC c.540
Y K G V Y E G W Y C A S D E C F L P E A p.180
. . . . . . g.5702
AAGGTCACCCAGCAGCCGGGCCCATCGGGGGATTCGTTTCCTGTATCTCTCGAGAGCGGG c.600
K V T Q Q P G P S G D S F P V S L E S G p.200
. . . . . . g.5762
CATCCAGTCTCCTGGACCAAGGAAGAAAACTACATTTTCAGGCTTTCCCAGTTCCGGAAG c.660
H P V S W T K E E N Y I F R L S Q F R K p.220
. . . . . . g.5822
CCACTCCAGCGGTGGCTGCGGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCAC c.720
P L Q R W L R G N P Q A I T P E P F H H p.240
. . . . . . g.5882
GTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGC c.780
V V L Q W L D E E L P D L S V S R R S S p.260
. . . . . . g.5942
CACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTG c.840
H L H W G I P V P G D D S Q T I Y V W L p.280
. . . . . . g.6002
GATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGG c.900
D A L V N Y L T V I G Y P N A E F K S W p.300
. . . . . . g.6062
TGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCATGCCATCTATTGG c.960
W P A T S H I I G K D I L K F H A I Y W p.320
. . . . . . g.6122
CCTGCCTTCCTGTTAGGGGCCGGCATGAGCCCGCCACAGCGCATCTGTGTCCATTCCCAC c.1020
P A F L L G A G M S P P Q R I C V H S H p.340
. . . . . . g.6182
TGGACAGTCTGTGGCCAAAAGATGTCCAAGAGCTTGGGCAACGTGGTGGATCCTAGGACT c.1080
W T V C G Q K M S K S L G N V V D P R T p.360
. . . . . . g.6242
TGCCTTAACCGCTATACCGTGGATGGCTTCCGCTACTTTCTCCTTCGGCAGGGCGTCCCC c.1140
C L N R Y T V D G F R Y F L L R Q G V P p.380
. . . . . . g.6302
AACTGGGACTGTGACTACTATGATGAAAAGGTGGTTAAGTTGCTGAACTCCGAGCTGGCA c.1200
N W D C D Y Y D E K V V K L L N S E L A p.400
. . . . . . g.6362
GATGCCTTGGGAGGTCTCTTGAACCGATGCACTGCCAAAAGAATAAATCCTTCTGAGACC c.1260
D A L G G L L N R C T A K R I N P S E T p.420
. . . . . . g.6422
TACCCAGCCTTCTGCACTACCTGCTTCCCTAGTGAGCCAGGGTTGGTGGGGCCGTCAGTT c.1320
Y P A F C T T C F P S E P G L V G P S V p.440
. . . . . . g.6482
CGTGCTCAGGCAGAGGATTATGCTCTGGTGAGCGCAGTGGCCACTTTGCCAAAGCAGGTA c.1380
R A Q A E D Y A L V S A V A T L P K Q V p.460
. . . . . . g.6542
GCAGACCACTATGATAACTTTCGGATATATAAGGCTCTGGAGGCCGTGTCCAGCTGTGTC c.1440
A D H Y D N F R I Y K A L E A V S S C V p.480
. . . . . . g.6602
CGGCAAACTAATGGTTTTGTCCAAAGGCATGCACCATGGAAGCTGAACTGGGAGAGCCCA c.1500
R Q T N G F V Q R H A P W K L N W E S P p.500
. . . . . . g.6662
GTGGATGCTCCCTGGCTGGGTACTGTGCTTCATGTGGCCTTGGAATGTTTGCGAGTCTTT c.1560
V D A P W L G T V L H V A L E C L R V F p.520
. . . . . . g.6722
GGGACTTTGCTGCAGCCTGTCACCCCAAGCCTAGCTGACAAGCTGCTGTCTAGGCTGGGG c.1620
G T L L Q P V T P S L A D K L L S R L G p.540
. . . . . . g.6782
GTCTCTGCCTCAGAGAGGAGTCTTGGAGAGCTCTATTTCTTGCCTCGATTCTATGGACAT c.1680
V S A S E R S L G E L Y F L P R F Y G H p.560
. . . . . . g.6842
CCATGCCCTTTTGAAGGGAGGAGGCTGGGACCTGAAACTGGGCTTTTGTTTCCAAGACTA c.1740
P C P F E G R R L G P E T G L L F P R L p.580
. . . . g.6884
GACCAGTCCAGGACTTGGCTGGTGAAAGCCCACCGGACCTAG c.1782
D Q S R T W L V K A H R T X p.593
. . . . . . g.6944
aaactcagttcttaccggcttgtggtaaaaaagcaaatgtgttatctttttattttttat c.*60
. . . . . . g.7004
tttcaggaaagttatactagtattttcttaagtgtggaatcaaatgagcacataagctgt c.*120
. . . . . . g.7064
gtccctgtgaaaagaggtttgtagcctttcaggtgcctgctcctattcatttctctgtga c.*180
. . . . . . g.7124
ccattgatcactgtcctttgtgcattgtgtgtctaagatgtcttcaggggaaagatgggt c.*240
. . . . . . g.7184
aagagacagtgttgctaatgctgttccttctttgtgcctccttccaaaccacagttattt c.*300
. . . . . . g.7244
gcccaaactacctctcgtggctggtttttcattggcctggcctctgcttctcaggctaat c.*360
. . . . . . g.7304
tagtgactcctttctttgagggtcagggttggaggccccttactggtggttttacagggg c.*420
. . . . . . g.7364
gatcctactttgttacacatgttgggtttcctgataaaaagagagtattttattaaaccc c.*480
. . . . . . g.7424
ttgaaccagtgtcctagaccagatgatttttgcccatgtgtatccccatttaaattccta c.*540
. . . . . . g.7484
caactaagtctccctgctttgttaatagtccaacagttgggttgtgtaacatcacacttc c.*600
. . . . . . g.7544
aaccggtagatggctctaatctcacacatttacttactaaagattgaggattcggaatat c.*660
. . . . . . g.7604
ttagaataaattagttttctgctttctaattttgcagatctttacatttttattgctttt c.*720
. . . . . . g.7664
cttaaaataagggatagctttgcaaccactattgttttaatggaaagcaaaaaacccccc c.*780
. . . . . . g.7724
caaacttatcagaatcctcgttctttttcagactactgaaaaatgacatttactctgtta c.*840
. . . . . . g.7784
aatgtttaataagtgaataagtaaatgtatcaagttgtttatataataaattataaaact c.*900
. . . . . . g.7844
cttgaggcacttggtatgttaaaaattttaaactttagtaacattaggttacaggtatga c.*960
. . . . . . g.7904
tttaaaaatttgtaaatagttcaaaagggcaatgttttctttatatttcttatagtctta c.*1020
. . . . . . g.7964
attttgttatccatgtgcataatttacctcatgatttcttttggtcaatcaggatcttta c.*1080
. . . . . . g.8024
atacaatatagaaattgtgtaatagttattataaatgttaatacacaactttcaggtaat c.*1140
. . . . . . g.8084
tttaactgattatttcttttgctcttttaacttaagttattaaagtttaaaagttcgtaa c.*1200
g.8087
gta c.*1203
(downstream sequence)
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