(used for variant description)
(last modified August 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004990.3 in the MARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034077.1, covering MARS transcript NM_004990.3.
(upstream sequence)
. g.5018
aaatagtctactttccgg c.-121
. . . . . . g.5078
tagcggtgccagggcagtggcctaatacggaactccatttcccggcgtgcctcgcggagg c.-61
. . . . . . g.5138
ccgctgaactcagaagcgggaggccggttccggttgcatcagcgagggattcacggcgaa c.-1
. . . . . . g.5198
ATGAGACTGTTCGTGAGTGATGGCGTCCCGGGTTGCTTGCCGGTGCTGGCCGCCGCCGGG c.60
M R L F V S D G V P G C L P V L A A A G p.20
. . . . | 02 . g.6077
AGAGCCCGGGGCAGAGCAGAGGTGCTCATCAGCACTGTAGGCCCGGAAG | ATTGTGTGGTC c.120
R A R G R A E V L I S T V G P E D | C V V p.40
. . . . . . g.6137
CCGTTCCTGACCCGGCCTAAGGTCCCTGTCTTGCAGCTGGATAGCGGCAACTACCTCTTC c.180
P F L T R P K V P V L Q L D S G N Y L F p.60
. . | 03 . . . . g.6354
TCCACTAGTGCAATCTGCCG | ATATTTTTTTTTGTTATCTGGCTGGGAGCAAGATGACCTC c.240
S T S A I C R | Y F F L L S G W E Q D D L p.80
. . . | 04 . . g.6492
ACTAACCAGTGGCTGGAATGGGAAGCGACAGAGCTGCAG | CCAGCTTTGTCTGCTGCCCTG c.300
T N Q W L E W E A T E L Q | P A L S A A L p.100
. . . . . . g.6552
TACTATTTAGTGGTCCAAGGCAAGAAGGGGGAAGATGTTCTTGGTTCAGTGCGGAGAGCC c.360
Y Y L V V Q G K K G E D V L G S V R R A p.120
. . . . . | 05 . g.6949
CTGACTCACATTGACCACAGCTTGAGTCGTCAGAACTGTCCTTTCCTGGCTGGG | GAGACA c.420
L T H I D H S L S R Q N C P F L A G | E T p.140
. . . . . . g.7009
GAATCTCTAGCCGACATTGTTTTGTGGGGAGCCCTATACCCATTACTGCAAGATCCCGCC c.480
E S L A D I V L W G A L Y P L L Q D P A p.160
. | 06 . . . . . g.7304
TACCTCCCTG | AGGAGCTGAGTGCCCTGCACAGCTGGTTCCAGACACTGAGTACCCAGGAA c.540
Y L P E | E L S A L H S W F Q T L S T Q E p.180
. . . . . . g.7364
CCATGTCAGCGAGCTGCAGAGACTGTACTGAAACAGCAAGGTGTCCTGGCTCTCCGGCCT c.600
P C Q R A A E T V L K Q Q G V L A L R P p.200
. . . . . . g.7424
TACCTCCAAAAGCAGCCCCAGCCCAGCCCCGCTGAGGGAAGGGCTGTCACCAATGAGCCT c.660
Y L Q K Q P Q P S P A E G R A V T N E P p.220
| 07 . . . . . . g.7642
GAG | GAGGAGGAGCTGGCTACCCTATCTGAGGAGGAGATTGCTATGGCTGTTACTGCTTGG c.720
E | E E E L A T L S E E E I A M A V T A W p.240
. . . . . | 08 . g.15214
GAGAAGGGCCTAGAAAGTTTGCCCCCGCTGCGGCCCCAGCAGAATCCAGT | GTTGCCTGTG c.780
E K G L E S L P P L R P Q Q N P V | L P V p.260
. . . . . . g.15274
GCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCAC c.840
A G E R N V L I T S A L P Y V N N V P H p.280
. . . . | 09. . g.15480
CTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAG | GTACTCTCGCCTC c.900
L G N I I G C V L S A D V F A R | Y S R L p.300
. . . . . . g.15540
CGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACC c.960
R Q W N T L Y L C G T D E Y G T A T E T p.320
. . . . . . g.15600
AAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCAT c.1020
K A L E E G L T P Q E I C D K Y H I I H p.340
. . . . . . g.15660
GCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCA c.1080
A D I Y R W F N I S F D I F G R T T T P p.360
. | 10 . . . . . g.17417
CAGCAGACCAA | AATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTG c.1140
Q Q T K | I T Q D I F Q Q L L K R G F V L p.380
. . . . . . g.17477
CAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTC c.1200
Q D T V E Q L R C E H C A R F L A D R F p.400
. . . . . . g.17537
GTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAG c.1260
V E G V C P F C G Y E E A R G D Q C D K p.420
. . . | 11 . . . g.21299
TGTGGCAAGCTCATCAATGCTGTCGAGCTTAAG | AAGCCTCAGTGTAAAGTCTGCCGATCA c.1320
C G K L I N A V E L K | K P Q C K V C R S p.440
. . . . | 12 . g.28757
TGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAG | CTGGAGAAGCGA c.1380
C P V V Q S S Q H L F L D L P K | L E K R p.460
. . . . . . g.28817
CTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTT c.1440
L E E W L G R T L P G S D W T P N A Q F p.480
. . . . . . g.28877
ATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAA c.1500
I T R S W L R D G L K P R C I T R D L K p.500
. . . | 13 . . g.29076
TGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAG | GTATTCTATGTCTGGTTTGAT c.1560
W G T P V P L E G F E D K | V F Y V W F D p.520
. . . . . . g.29136
GCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGG c.1620
A T I G Y L S I T A N Y T D Q W E R W W p.540
. | 14 . . . . . g.29328
AAGAACCCAGAGCAA | GTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCAT c.1680
K N P E Q | V D L Y Q F M A K D N V P F H p.560
. . . . . . g.29388
AGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCAC c.1740
S L V F P C S A L G A E D N Y T L V S H p.580
. | 15 . . . . . g.29845
CTCATTGCTACAG | AGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTG c.1800
L I A T E | Y L N Y E D G K F S K S R G V p.600
. . . . . . g.29905
GGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTAT c.1860
G V F G D M A Q D T G I P A D I W R F Y p.620
. . . . . . g.29965
CTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTG c.1920
L L Y I R P E G Q D S A F S W T D L L L p.640
. . . . | 16. . g.31780
AAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAG | AGCTGGGATGTTT c.1980
K N N S E L L N N L G N F I N R | A G M F p.660
. . . . . . g.31840
GTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGC c.2040
V S K F F G G Y V P E M V L T P D D Q R p.680
. . . . . | 17 g.32002
CTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCG | G c.2100
L L A H V T L E L Q H Y H Q L L E K V R | p.700
. . . . . . g.32062
ATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAG c.2160
I R D A L R S I L T I S R H G N Q Y I Q p.720
. . . . | 18 . . g.32213
GTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAG | GCAACGGGCAGGAACA c.2220
V N E P W K R I K G S E A D R | Q R A G T p.740
. . . . . . g.32273
GTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATG c.2280
V T G L A V N I A A L L S V M L Q P Y M p.760
. . . . . . g.32333
CCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATC c.2340
P T V S A T I Q A Q L Q L P P P A C S I p.780
. . . . . | 19 . g.32976
CTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACA | GTCAGTCCC c.2400
L L T N F L C T L P A G H Q I G T | V S P p.800
. . . . . . g.33036
TTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGC c.2460
L F Q K L E N D Q I E S L R Q R F G G G p.820
| 20 . . . . . . g.33349
CAG | GCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACAGCCAAGCCACAG c.2520
Q | A K T S P K P A V V E T V T T A K P Q p.840
. . . | 21 . . . g.33506
CAGATACAAGCGCTGATGGATGAAGTGACAAAACAA | GGAAACATTGTCCGAGAACTGAAA c.2580
Q I Q A L M D E V T K Q | G N I V R E L K p.860
. . . . . . g.33566
GCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAG c.2640
A Q K A D K N E V A A E V A K L L D L K p.880
. . . . . . g.33626
AAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAG c.2700
K Q L A V A E G K P P E A P K G K K K K p.900
g.33629
TAA c.2703
X p.900
. . . . . . g.33689
aagaccttggctcatagaaagtcactttaatagatagggacagtaataaataaatgtaca c.*60
. g.33703
atctctatatacaa c.*74
(downstream sequence)
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