(used for variant description)
(last modified February 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_020320.3 in the RARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering RARS2 transcript NM_020320.3.
(upstream sequence)
. . . . . . g.5060
ataaggaggtggggcgaggccggaactggcggactgcggcgcacttccgtagaggtggac c.-1
. . . | 02 . . . g.25451
ATGGCGTGCGGCTTTCGCCGCGCTATTGCTTGCCAG | CTTTCCAGAGTGTTGAATCTTCCA c.60
M A C G F R R A I A C Q | L S R V L N L P p.20
. . . . . | 03 . g.30795
CCAGAAAACTTGATCACATCAATATCTGCAGTTCCAATTTCCCAAAAAGA | AGAAGTAGCT c.120
P E N L I T S I S A V P I S Q K E | E V A p.40
. . . . . . g.30855
GATTTTCAGCTTTCTGTGGATTCTTTATTGGAAAAAGACAATGACCATTCAAGACCAGAT c.180
D F Q L S V D S L L E K D N D H S R P D p.60
. . . | 04 . . . g.32259
ATTCAAGTTCAAGCCAAGAGACTAGCAGAGAAG | CTAAGATGTGATACAGTGGTGAGTGAA c.240
I Q V Q A K R L A E K | L R C D T V V S E p.80
. . . . . | 05. g.39515
ATCAGTACTGGTCAAAGGACTGTAAATTTCAAAATAAACAGAGAGCTCTTAACAAAG | ACA c.300
I S T G Q R T V N F K I N R E L L T K | T p.100
. . . . . . g.39575
GTGCTACAACAAGTAATTGAAGATGGCTCAAAATATGGATTAAAAAGTGAACTTTTCTCT c.360
V L Q Q V I E D G S K Y G L K S E L F S p.120
. . . | 06 . . . g.46396
GGACTTCCCCAGAAGAAGATTGTGGTTGAATTCAG | TTCACCTAATGTTGCCAAAAAATTT c.420
G L P Q K K I V V E F S | S P N V A K K F p.140
. . . | 07 . . . g.49347
CATGTTGGACATTTGCGTTCTACCATCATAG | GAAATTTTATAGCAAATCTCAAAGAAGCT c.480
H V G H L R S T I I G | N F I A N L K E A p.160
. . . . . | 08 . g.53028
TTAGGACATCAAGTAATAAGAATAAATTACCTTGGCGATTGGGGCATGCAGTTTG | GTCTT c.540
L G H Q V I R I N Y L G D W G M Q F G | L p.180
. . . . . . g.53088
CTGGGAACTGGCTTCCAGCTGTTTGGCTATGAGGAAAAACTGCAGTCCAATCCTCTACAG c.600
L G T G F Q L F G Y E E K L Q S N P L Q p.200
. | 09 . . . . . g.64123
CATCTCTTTGAA | GTTTATGTACAAGTTAATAAAGAAGCAGCAGATGATAAAAGTGTAGCA c.660
H L F E | V Y V Q V N K E A A D D K S V A p.220
. . . . . . g.64183
AAAGCAGCACAGGAGTTCTTCCAACGATTGGAACTGGGCGATGTGCAAGCACTTTCACTG c.720
K A A Q E F F Q R L E L G D V Q A L S L p.240
. . . . . | 10 . g.65378
TGGCAAAAATTTCGGGACTTGAGCATTGAAGAGTACATTCGGGTTTACAAG | CGTCTGGGA c.780
W Q K F R D L S I E E Y I R V Y K | R L G p.260
. . . . . . g.65438
GTATATTTTGATGAATATTCAGGAGAATCATTTTATCGTGAAAAATCTCAAGAGGTCTTA c.840
V Y F D E Y S G E S F Y R E K S Q E V L p.280
. . . | 11 . . g.70387
AAGTTGCTGGAGAGTAAAGGACTCCTACTGAAAACAAT | AAAAGGAACGGCTGTAGTAGAT c.900
K L L E S K G L L L K T I | K G T A V V D p.300
. . . . . . g.70447
CTCTCTGGGAATGGCGACCCCTCCTCAATTTGTACTGTAATGCGAAGTGATGGGACTTCT c.960
L S G N G D P S S I C T V M R S D G T S p.320
. | 12 . . . . . g.73539
CTCTATGCAACCAG | AGATCTTGCAGCTGCTATAGATCGAATGGACAAGTATAATTTTGAT c.1020
L Y A T R | D L A A A I D R M D K Y N F D p.340
. | 13 . . . . . g.74806
ACAATGATATATGTG | ACAGATAAAGGACAAAAAAAGCATTTTCAGCAAGTATTCCAAATG c.1080
T M I Y V | T D K G Q K K H F Q Q V F Q M p.360
. . . | 14 . . . g.75338
CTGAAGATCATGGGATATGACTGGGCAGAAAG | GTGCCAGCACGTGCCCTTTGGAGTAGTA c.1140
L K I M G Y D W A E R | C Q H V P F G V V p.380
. . . . . . g.75398
CAGGGAATGAAGACTCGAAGAGGAGATGTCACTTTCCTGGAAGATGTTTTAAATGAGATT c.1200
Q G M K T R R G D V T F L E D V L N E I p.400
. . . | 15. . . g.76149
CAATTAAGGATGCTACAGAACATGGCTTCAATTAAGA | CAACTAAAGAACTCAAGAACCCA c.1260
Q L R M L Q N M A S I K T | T K E L K N P p.420
. . . . | 16 . . g.76293
CAAGAGACTGCAGAGAGGGTCGGGCTCGCAGCACTCATTATTCAG | GACTTCAAAGGTTTA c.1320
Q E T A E R V G L A A L I I Q | D F K G L p.440
. . . . . . g.76353
CTCTTATCTGACTACAAGTTCAGCTGGGATCGTGTTTTCCAGAGTCGCGGGGACACAGGA c.1380
L L S D Y K F S W D R V F Q S R G D T G p.460
. . . | 17 . . . g.76778
GTCTTCCTACAGTACACACACGCCCGCCTCCACAG | TTTGGAAGAGACTTTTGGATGTGGG c.1440
V F L Q Y T H A R L H S | L E E T F G C G p.480
. . . . . . g.76838
TACCTGAATGACTTCAACACTGCTTGTTTACAAGAGCCACAGTCTGTTTCAATTCTTCAG c.1500
Y L N D F N T A C L Q E P Q S V S I L Q p.500
. | 18 . . . . . g.78186
CATCTTCTCAG | GTTCGACGAGGTGCTTTATAAATCATCTCAGGACTTTCAACCCAGGCAT c.1560
H L L R | F D E V L Y K S S Q D F Q P R H p.520
. . | 19 . . . . g.80031
ATCGTCAGTTACCTTCTAACTTTAAG | TCATCTTGCAGCTGTGGCACACAAAACACTACAA c.1620
I V S Y L L T L S | H L A A V A H K T L Q p.540
. . . | 20 . . . g.80548
ATAAAAGATAGTCCTCCTGAAGTGGCTGGG | GCCAGACTTCATCTTTTCAAAGCTGTCCGT c.1680
I K D S P P E V A G | A R L H L F K A V R p.560
. . . . . g.80605
TCTGTCCTAGCCAATGGAATGAAACTTCTTGGAATAACACCTGTATGTAGGATGTAA c.1737
S V L A N G M K L L G I T P V C R M X p.578
. . . g.80640
tttccattaaaatggcttttaaaatgtcaagtgaa c.*35
(downstream sequence)
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