(used for variant description)
(last modified August 28, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_002109.3 in the HARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering HARS transcript NM_002109.3.
(upstream sequence)
. . g.5022
tcgatagccggaagtcatcctt c.-61
. . . . . . g.5082
gctgaggctggggcaaccaccgcaggtcgagacagcaggcggctcaagtggacagccggg c.-1
. . . . . . g.5142
ATGGCAGAGCGTGCGGCGCTGGAGGAGCTGGTGAAACTTCAGGGAGAGCGCGTGCGAGGC c.60
M A E R A A L E E L V K L Q G E R V R G p.20
. . . | 02 . . . g.5472
CTCAAGCAGCAGAAGGCCAGCGCCGAGCTG | ATCGAGGAGGAGGTGGCGAAACTCCTGAAA c.120
L K Q Q K A S A E L | I E E E V A K L L K p.40
. . . . . . g.5532
CTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAG c.180
L K A Q L G P D E S K Q K F V L K T P K p.60
| 03 . . . . . . g.13227
| GGCACAAGAGACTATAGTCCCCGGCAGATGGCAGTTCGCGAGAAGGTGTTTGACGTAATC c.240
| G T R D Y S P R Q M A V R E K V F D V I p.80
. . . . . . g.13287
ATCCGTTGCTTCAAGCGCCACGGTGCAGAAGTCATTGATACACCTGTATTTGAACTAAAG c.300
I R C F K R H G A E V I D T P V F E L K p.100
| 04 . . . . . . g.16563
| GAAACACTGATGGGAAAGTATGGGGAAGACTCCAAGCTTATCTATGACCTGAAGGACCAG c.360
| E T L M G K Y G E D S K L I Y D L K D Q p.120
. . . | 05 . . . g.17283
GGCGGGGAGCTCCTGTCCCTTCGCTATGACCTCACT | GTTCCTTTTGCTCGGTATTTGGCA c.420
G G E L L S L R Y D L T | V P F A R Y L A p.140
. . . . . . g.17343
ATGAATAAACTGACCAACATTAAACGCTACCACATAGCAAAGGTATATCGGCGGGATAAC c.480
M N K L T N I K R Y H I A K V Y R R D N p.160
. . . . | 06 . . g.18389
CCAGCCATGACCCGTGGCCGATACCGGGAATTCTACCAGTGT | GATTTTGACATTGCTGGG c.540
P A M T R G R Y R E F Y Q C | D F D I A G p.180
. . . . . . g.18449
AACTTTGATCCCATGATCCCTGATGCAGAGTGCCTGAAGATCATGTGCGAGATCCTGAGT c.600
N F D P M I P D A E C L K I M C E I L S p.200
. . . | 07 . . . g.18663
TCACTTCAGATAGGCGACTTCCTGGTCAAG | GTAAACGATCGACGCATTCTAGATGGGATG c.660
S L Q I G D F L V K | V N D R R I L D G M p.220
. . . . . . g.18723
TTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAG c.720
F A I C G V S D S K F R T I C S S V D K p.240
| 08 . . . . . g.19017
CTGGACAAG | GTGTCCTGGGAAGAGGTGAAGAATGAGATGGTGGGAGAGAAGGGCCTTGCA c.780
L D K | V S W E E V K N E M V G E K G L A p.260
. . . . | 09 . . g.19287
CCTGAGGTGGCTGACCGCATTGGGGACTATGTCCAGCAACATG | GTGGGGTATCCCTGGTG c.840
P E V A D R I G D Y V Q Q H G | G V S L V p.280
. . . . . . g.19347
GAACAGCTGCTCCAGGATCCTAAACTATCCCAAAACAAGCAGGCCTTGGAGGGCCTGGGA c.900
E Q L L Q D P K L S Q N K Q A L E G L G p.300
. . . . . | 10 . g.19499
GACCTGAAGTTGCTCTTTGAGTACCTGACCCTATTTGGCATTGATGACAAA | ATCTCCTTT c.960
D L K L L F E Y L T L F G I D D K | I S F p.320
. . . . . . g.19559
GACCTGAGCCTTGCTCGAGGGCTGGATTACTACACTGGGGTGATCTATGAGGCAGTGCTG c.1020
D L S L A R G L D Y Y T G V I Y E A V L p.340
. . . . . . g.19619
CTACAGACCCCAGCCCAGGCAGGGGAAGAGCCCCTGGGTGTGGGCAGTGTGGCTGCTGGA c.1080
L Q T P A Q A G E E P L G V G S V A A G p.360
. . . . . . g.19679
GGACGCTATGATGGGCTAGTGGGCATGTTCGACCCCAAAGGGCGCAAGGTGCCATGTGTG c.1140
G R Y D G L V G M F D P K G R K V P C V p.380
. . . . . | 11 . g.21259
GGGCTCAGCATTGGGGTGGAGCGGATTTTCTCCATCGTGGAACAGAGACTAGAG | GCTTTG c.1200
G L S I G V E R I F S I V E Q R L E | A L p.400
. . . . . . g.21319
GAGGAGAAGATACGGACCACGGAGACACAGGTGCTTGTGGCATCTGCACAGAAGAAGCTG c.1260
E E K I R T T E T Q V L V A S A Q K K L p.420
. . . . . | 12 . g.21570
CTAGAGGAAAGACTAAAGCTTGTCTCAGAACTGTGGGATGCTGGGATCAAG | GCTGAGCTG c.1320
L E E R L K L V S E L W D A G I K | A E L p.440
. . . . . . g.21630
CTGTACAAGAAGAACCCAAAGCTACTGAACCAGTTACAGTACTGTGAGGAGGCAGGCATC c.1380
L Y K K N P K L L N Q L Q Y C E E A G I p.460
. . . . . . g.21690
CCACTGGTGGCTATCATCGGCGAGCAGGAACTCAAGGATGGGGTCATCAAGCTCCGTTCA c.1440
P L V A I I G E Q E L K D G V I K L R S p.480
. | 13 . . . . g.22100
GTGACGAGCAGGGAAGAG | GTGGATGTCCGAAGAGAAGACCTTGTGGAGGAAATCAAAAGG c.1500
V T S R E E | V D V R R E D L V E E I K R p.500
. . . g.22130
AGAACAGGCCAGCCCCTCTGCATCTGCTGA c.1530
R T G Q P L C I C X p.509
. . . . . . g.22190
actgaacaaactatcagaggaaaggaagtgggactggcactatttgaggttaagacaaac c.*60
. . . . . . g.22250
tgcatatgtacttcaattgctttgcacttttccgtttcagcggaagacctgaagagtggt c.*120
. . . . . . g.22310
cagaacagagcctttgatttttattatggttattttattgattattactggcaaaaacgg c.*180
. . . . . . g.22370
ccaggtacaacacctttttcatacaaggcccaggaggcttagtccagtctgtgctcctgg c.*240
. . . . . . g.22430
gctacaaggacccagcctgagatggtcccatctgcagggccccgcaccagttggagcaga c.*300
. . . . . g.22482
tgcctccccaccaccaattgccaaaggtccaataaaatgcctcaaccacgga c.*352
(downstream sequence)
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