(used for variant description)
(last modified May 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005051.1 in the QARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering QARS transcript NM_005051.1.
(upstream sequence)
g.5005
ctgca c.-1
. . . . . . g.5065
ATGGCGGCTCTAGACTCCCTGTCGCTCTTCACTAGCCTCGGCCTGAGCGAGCAGAAGGCC c.60
M A A L D S L S L F T S L G L S E Q K A p.20
. . . . . | 02. g.5270
CGCGAGACGCTCAAGAACTCGGCTCTGAGCGCGCAGCTGCGCGAGGCCGCTACTCAG | GCT c.120
R E T L K N S A L S A Q L R E A A T Q | A p.40
. . . . . . g.5330
CAGCAGACCCTGGGTTCCACCATTGACAAAGCTACCGGGATCCTGTTATATGGCTTGGCC c.180
Q Q T L G S T I D K A T G I L L Y G L A p.60
. . . . . . g.5390
TCCCGACTCAGGGATACCCGGCGTCTCTCCTTCCTTGTAAGCTACATAGCCAGTAAGAAG c.240
S R L R D T R R L S F L V S Y I A S K K p.80
. . | 03 . . . . g.5801
ATCCACACTGAGCCCCAGCTAAGCG | CTGCCCTTGAGTATGTGCGGAGTCACCCCTTGGAC c.300
I H T E P Q L S A | A L E Y V R S H P L D p.100
. . . . . . g.5861
CCCATCGACACTGTGGACTTCGAGCGGGAATGTGGCGTGGGTGTCATTGTGACCCCAGAG c.360
P I D T V D F E R E C G V G V I V T P E p.120
. | 04 . . . . . g.6077
CAGATTGAGGAGGCT | GTGGAGGCTGCTATTAACAGGCACCGGCCCCAGCTCCTGGTGGAA c.420
Q I E E A | V E A A I N R H R P Q L L V E p.140
. . . | 05 . . . g.6358
CGTTACCATTTCAACATGGGGCTGCTGATGG | GAGAGGCTCGGGCTGTGCTGAAGTGGGCA c.480
R Y H F N M G L L M G | E A R A V L K W A p.160
. . . | 06 . . . g.7290
GATGGCAAAATGATCAAGAATGAAGTGGACATGCAG | GTCCTCCACCTTCTGGGCCCCAAG c.540
D G K M I K N E V D M Q | V L H L L G P K p.180
. . . | 07 . . . g.7503
TTGGAGGCTGATCTGGAGAAGAAGTTCAAG | GTGGCAAAAGCTCGGCTAGAAGAAACAGAC c.600
L E A D L E K K F K | V A K A R L E E T D p.200
. . . | 08 . . . g.7868
CGGAGGACGGCAAAGGATGTGGTGGAGAATG | GCGAGACTGCTGACCAGACCCTGTCTCTG c.660
R R T A K D V V E N G | E T A D Q T L S L p.220
. . . . | 09 . . g.8050
ATGGAGCAGCTCCGGGGGGAGGCCCTTAAGTTCCACAAGCCTG | GTGAGAACTACAAGACC c.720
M E Q L R G E A L K F H K P G | E N Y K T p.240
. . . . . . g.8110
CCAGGCTATGTGGTCACTCCACACACCATGAATCTACTAAAGCAGCACCTGGAGATTACT c.780
P G Y V V T P H T M N L L K Q H L E I T p.260
| 10 . . . . . g.8348
GGTGGGCAG | GTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACAT c.840
G G Q | V R T R F P P E P N G I L H I G H p.280
. . . | 11 . . . g.9088
GCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAG | GCCAACAATGGCATCTGTTTTCTG c.900
A K A I N F N F G Y A K | A N N G I C F L p.300
. . . . . . g.9148
CGTTTTGATGACACCAACCCTGAGAAGGAGGAAGCAAAGTTCTTCACGGCCATCTGTGAC c.960
R F D D T N P E K E E A K F F T A I C D p.320
. | 12 . . . . . g.9324
ATGGTAGCCTGGCTAG | GCTACACACCTTACAAAGTCACATATGCGTCTGACTATTTTGAC c.1020
M V A W L G | Y T P Y K V T Y A S D Y F D p.340
. . . | 13 . . . g.9465
CAGCTATATGCGTGGGCTGTGGAGCTCATCCGCAG | GGGTCTGGCTTATGTGTGCCACCAG c.1080
Q L Y A W A V E L I R R | G L A Y V C H Q p.360
. . . . . . g.9525
CGAGGAGAGGAGCTCAAAGGCCATAATACTCTGCCTTCACCCTGGAGAGACCGTCCCATG c.1140
R G E E L K G H N T L P S P W R D R P M p.380
. . | 14 . . . . g.9683
GAGGAGTCACTGCTGCTCTTTGAG | GCAATGCGCAAGGGCAAGTTTTCAGAGGGCGAGGCC c.1200
E E S L L L F E | A M R K G K F S E G E A p.400
. . . . . . g.9743
ACACTACGGATGAAGCTGGTGATGGAGGATGGCAAGATGGACCCTGTAGCCTATCGAGTC c.1260
T L R M K L V M E D G K M D P V A Y R V p.420
. . . | 15 . . . g.9910
AAGTATACACCACACCACCGCACAGGGGACAAATG | GTGCATCTATCCCACCTACGACTAC c.1320
K Y T P H H R T G D K W | C I Y P T Y D Y p.440
. . . . . . g.9970
ACACACTGCCTCTGTGACTCCATCGAGCACATCACTCACTCACTCTGCACCAAGGAATTC c.1380
T H C L C D S I E H I T H S L C T K E F p.460
| 16 . . . . . g.10143
CAGGCCCG | ACGCTCTTCCTACTTCTGGCTTTGCAATGCACTGGACGTCTATTGCCCTGTG c.1440
Q A R | R S S Y F W L C N A L D V Y C P V p.480
. . . . . . g.10203
CAGTGGGAGTATGGCCGCCTCAACCTGCACTATGCTGTTGTCTCTAAGAGGAAGATCCTC c.1500
Q W E Y G R L N L H Y A V V S K R K I L p.500
. . | 17 . . . . g.10341
CAGCTTGTAGCAACTGGTGCTGTGCG | GGACTGGGATGACCCACGGCTCTTTACACTCACG c.1560
Q L V A T G A V R | D W D D P R L F T L T p.520
. . . . . | 18 . g.10491
GCCCTGCGACGGCGGGGCTTCCCACCTGAGGCCATCAACAACTTCTGTGCCCGG | GTGGGA c.1620
A L R R R G F P P E A I N N F C A R | V G p.540
. . . . . . g.10551
GTGACTGTGGCACAAACCACAATGGAGCCACATCTTCTAGAAGCCTGTGTGCGTGATGTG c.1680
V T V A Q T T M E P H L L E A C V R D V p.560
. . . . . . g.10611
CTGAATGACACAGCCCCACGAGCCATGGCTGTGCTGGAGTCACTACGGGTCATCATCACC c.1740
L N D T A P R A M A V L E S L R V I I T p.580
. | 19 . . . . g.10791
AACTTTCCTGCTGCCAAG | TCCTTGGACATCCAGGTGCCCAACTTCCCAGCTGATGAGACC c.1800
N F P A A K | S L D I Q V P N F P A D E T p.600
. . . . . . g.10851
AAAGGCTTCCATCAGGTTCCCTTTGCACCCATTGTCTTCATTGAGAGGACTGACTTCAAG c.1860
K G F H Q V P F A P I V F I E R T D F K p.620
| 20 . . . . . . g.11103
GAG | GAGCCAGAGCCAGGATTTAAGCGCCTGGCTTGGGGCCAGCCTGTGGGCCTGAGGCAT c.1920
E | E P E P G F K R L A W G Q P V G L R H p.640
. . . | 21 . . . g.11282
ACAGGCTACGTCATTGAGCTGCAGCATGTTGTCAAG | GGCCCCAGTGGTTGTGTAGAGAGT c.1980
T G Y V I E L Q H V V K | G P S G C V E S p.660
. . . . . . g.11342
CTGGAGGTGACCTGCAGACGGGCAGATGCTGGAGAGAAGCCAAAGGCCTTTATTCACTGG c.2040
L E V T C R R A D A G E K P K A F I H W p.680
. . . . | 22 . . g.11496
GTGTCACAGCCTTTGATGTGTGAGGTTCGCCTCTATGAGCGACT | ATTCCAGCACAAGAAC c.2100
V S Q P L M C E V R L Y E R L | F Q H K N p.700
. . . . . | 23 . g.11630
CCTGAAGATCCTACTGAGGTGCCTGGTGGATTTTTAAGTGACCTGAACCTG | GCATCACTA c.2160
P E D P T E V P G G F L S D L N L | A S L p.720
. . . . . . g.11690
CACGTGGTGGATGCAGCATTAGTGGACTGCTCTGTGGCCCTGGCAAAACCCTTCGACAAG c.2220
H V V D A A L V D C S V A L A K P F D K p.740
. . . . . | 24. g.13662
TTCCAGTTTGAGCGTCTTGGATATTTCTCCGTGGATCCAGACAGCCATCAGGGAAAG | CTT c.2280
F Q F E R L G Y F S V D P D S H Q G K | L p.760
. . . . g.13710
GTCTTTAACCGAACTGTCACACTGAAGGAAGACCCAGGAAAGGTGTGA c.2328
V F N R T V T L K E D P G K V X p.775
. . . . . . g.13770
gctggaagcactgaacctacctcatcctcctggagggtgtggctaccctcgccaccccaa c.*60
. . . g.13807
attccatgtcaataaagaacagctaaattctcctaga c.*97
(downstream sequence)
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