(used for variant description)
(last modified February 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_018122.4 in the DARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering DARS2 transcript NM_018122.4.
(upstream sequence)
. . . g.5031
tagcgggcggagttgaagggcgcttggaccc c.-541
. . . . . . g.5091
cagcggcgatctgtgtttgggttcgcgctctgggagaattttggctttgctcgccttcct c.-481
. . . . . . g.5151
ctttcagaagactcgaaatcggccagcaggtctgcgagatttgaaacgcgactgttactc c.-421
. . . . . . g.5211
cttgttttccggttctggccgcgggagcctctcgagaagcgtggaaagaggagaagggcg c.-361
. . . . . . g.5271
tataccttgtgaccgcctctggttgtcttgggctcgcgcctggcgccgctacgtggagtc c.-301
. . . . . . g.5331
gctctctcgtcgtcacttttggctgccgacttgttgagtagaagtgcagactgatgcttt c.-241
. . . . . . g.5391
aagactcagggagaggtctttcccttatctccaccccagcaagcaccccagagaccttgg c.-181
. . . . . . g.5451
agatttgtcttgtttctagacacgtgtactccaatgttgtgcggaggaggccttaaatat c.-121
. . . . . . g.5511
tcgagaagagagtgggaactcctggaattttaagggatttctgtgtatttccaaaactga c.-61
. . . . . . g.5571
cttttaactaccggcagcgtgggatttcgtgattgtttttcgccatcgtgtggctccaac c.-1
. . . . . . g.5631
ATGTACTTCCCTTCTTGGTTAAGTCAGCTGTACAGGGGTTTATCCAGACCCATCAGAAGG c.60
M Y F P S W L S Q L Y R G L S R P I R R p.20
. . . . . . g.5691
ACCACCCAACCGATCTGGGGTTCTCTCTACAGAAGTCTGTTGCAGAGTTCACAGAGGAGA c.120
T T Q P I W G S L Y R S L L Q S S Q R R p.40
| 02. . . . . . g.7081
ATTCCAG | AATTCAGTAGCTTTGTTGTCCGGACCAACACATGTGGAGAGTTGCGTTCGTCT c.180
I P E | F S S F V V R T N T C G E L R S S p.60
. . . . | 03. . g.8687
CACTTAGGCCAAGAAGTCACCTTGTGTGGATGGATTCAGTACCGAAG | GCAAAACACATTC c.240
H L G Q E V T L C G W I Q Y R R | Q N T F p.80
. . . . . | 04 . g.11007
TTGGTCCTAAGAGATTTCGATGGGCTTGTTCAAGTTATCATTCCCCAGGATGAG | TCGGCA c.300
L V L R D F D G L V Q V I I P Q D E | S A p.100
. . . . . . g.11067
GCCTCTGTGAAGAAGATTTTATGTGAAGCCCCTGTGGAATCTGTGGTGCAAGTGTCTGGT c.360
A S V K K I L C E A P V E S V V Q V S G p.120
. . . | 05 . . . g.11900
ACAGTCATTTCCCGTCCTGCAGGACAAGAGAATCCA | AAAATGCCAACAGGTGAGATTGAA c.420
T V I S R P A G Q E N P | K M P T G E I E p.140
. . . . . . g.11960
ATCAAAGTTAAAACAGCTGAGCTTCTGAATGCCTGCAAGAAGCTGCCCTTTGAAATTAAG c.480
I K V K T A E L L N A C K K L P F E I K p.160
. | 06 . . . . . g.13765
AACTTCGTGAAG | AAAACAGAGGCTCTTCGGTTGCAGTATCGCTACTTAGACTTGCGTAGT c.540
N F V K | K T E A L R L Q Y R Y L D L R S p.180
. . . . . . g.13825
TTCCAAATGCAGTATAACCTGCGACTGAGGTCCCAGATGGTCATGAAAATGCGGGAATAT c.600
F Q M Q Y N L R L R S Q M V M K M R E Y p.200
. | 07 . . . . . g.14858
CTCTGTAATCTGCATG | GGTTTGTGGATATAGAAACCCCCACATTGTTTAAGAGGACCCCA c.660
L C N L H G | F V D I E T P T L F K R T P p.220
| 08 . . . . . . g.17338
GGG | GGTGCCAAAGAGTTTTTAGTACCATCCAGGGAACCTGGAAAGTTTTATTCTCTCCCT c.720
G | G A K E F L V P S R E P G K F Y S L P p.240
. . . . . | 09 . g.18541
CAGAGTCCTCAACAGTTTAAGCAACTTCTGATGGTTGGCGGTTTAGACAG | ATATTTTCAG c.780
Q S P Q Q F K Q L L M V G G L D R | Y F Q p.260
. . . . . . g.18601
GTTGCCCGATGTTATCGAGATGAAGGTTCAAGACCAGACAGACAGCCTGAGTTTACTCAG c.840
V A R C Y R D E G S R P D R Q P E F T Q p.280
| 10 . . . . . . g.19768
| ATTGACATAGAGATGTCATTTGTAGACCAGACTGGGATCCAGAGTTTAATTGAGGGTTTG c.900
| I D I E M S F V D Q T G I Q S L I E G L p.300
. . . . . . g.19828
CTCCAGTATTCCTGGCCCAATGACAAAGATCCTGTGGTTGTTCCTTTTCCTACTATGACT c.960
L Q Y S W P N D K D P V V V P F P T M T p.320
. . . . . . g.19888
TTTGCTGAGGTGCTGGCCACCTATGGAACTGATAAACCTGACACTCGCTTTGGAATGAAG c.1020
F A E V L A T Y G T D K P D T R F G M K p.340
| 11 . . . . . . g.21267
| ATTATAGATATCAGTGATGTGTTTAGAAACACAGAGATTGGATTTCTTCAAGATGCACTT c.1080
| I I D I S D V F R N T E I G F L Q D A L p.360
. . . . | 12 . g.25582
AGTAAGCCCCATGGAACTGTGAAAGCCATATGTATCCCTGAAGGAGCA | AAATACTTAAAA c.1140
S K P H G T V K A I C I P E G A | K Y L K p.380
. . . . . | 13 . g.30677
AGGAAAGACATTGAATCCATTAGAAACTTTGCAGCTGACCATTTTAATCAG | GAAATCTTA c.1200
R K D I E S I R N F A A D H F N Q | E I L p.400
. . . . . . g.30737
CCTGTATTCCTTAACGCCAATAGAAACTGGAATTCTCCAGTTGCTAATTTCATAATGGAG c.1260
P V F L N A N R N W N S P V A N F I M E p.420
. . . . . . g.30797
TCACAAAGACTGGAATTAATCAGACTAATGGAGACCCAAGAGGAAGATGTGGTCCTACTA c.1320
S Q R L E L I R L M E T Q E E D V V L L p.440
. . | 14 . . . . g.33726
ACTGCTGGAGAGCACAATAAAGCA | TGCTCTTTGTTAGGAAAATTACGACTGGAATGTGCT c.1380
T A G E H N K A | C S L L G K L R L E C A p.460
. . . . . . g.33786
GACCTTCTAGAAACAAGAGGAGTGGTGCTCCGTGACCCCACTCTGTTCTCTTTCCTTTGG c.1440
D L L E T R G V V L R D P T L F S F L W p.480
. . . . . . g.33846
GTGGTAGATTTCCCACTCTTCCTGCCCAAGGAGGAAAATCCCAGAGAGCTGGAATCGGCC c.1500
V V D F P L F L P K E E N P R E L E S A p.500
. . . . . . g.33906
CACCACCCATTTACTGCTCCCCACCCCAGTGACATACATCTCCTGTACACTGAGCCCAAA c.1560
H H P F T A P H P S D I H L L Y T E P K p.520
| 15 . . . . . . g.34193
AAG | GCCCGTAGCCAACACTATGACTTGGTTTTAAATGGCAATGAAATAGGAGGTGGTTCA c.1620
K | A R S Q H Y D L V L N G N E I G G G S p.540
. . . . . | 16 . g.37013
ATTCGAATTCACAATGCAGAGCTGCAGCGTTATATCCTGGCAACCTTACTAAAG | GAGGAT c.1680
I R I H N A E L Q R Y I L A T L L K | E D p.560
. . . . . . g.37073
GTGAAAATGCTCTCCCATCTGCTCCAGGCTTTAGATTATGGGGCACCCCCTCATGGAGGA c.1740
V K M L S H L L Q A L D Y G A P P H G G p.580
. | 17 . . . . . g.37909
ATTGCCTTAG | GGTTAGACAGACTGATATGCCTTGTCACTGGATCTCCAAGCATCAGAGAT c.1800
I A L G | L D R L I C L V T G S P S I R D p.600
. . . . . . g.37969
GTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATACCCCAGATTCT c.1860
V I A F P K S F R G H D L M S N T P D S p.620
. . . . . . g.38029
GTCCCTCCTGAGGAACTGAAGCCCTATCATATCCGAGTCTCCAAGCCAACAGACTCCAAA c.1920
V P P E E L K P Y H I R V S K P T D S K p.640
. g.38047
GCAGAAAGAGCTCATTGA c.1938
A E R A H X p.645
. . . . . . g.38107
atcatgcataccatgcagaaagttgagcttttaggttttgtcctctttgcttccccaagg c.*60
. . . . . . g.38167
ctaaagtcagatctagagttctgccacaggtctaacaatcaagtctttagatggaaggaa c.*120
. . . . . . g.38227
tccaggcaacattcttcaccacaacgaagaaacagataaaagatacccaattttgacttg c.*180
. . . . . . g.38287
atttcatgcatcatttggattttttttggttaggactttttttgaagttcctttttactt c.*240
. . . . . . g.38347
aggtgtgaaagatggttctttgttgaaataatatagtggtttagtgttttcaaatcatgt c.*300
. . . . . . g.38407
ttctcatacccagatagtagattattcacttaggacagaggtaatcaaattatgtgtgaa c.*360
. . . . . . g.38467
atgtaggaaaatgcttgcccctgtaaactagtgagttgatggagcatttgcttcatcatc c.*420
. . . . . . g.38527
ctcatcaagagaatcatataaattaagctttataatgacatttcaaccatcaacataata c.*480
. . . . . . g.38587
tagtgaggagtagcataatattttttaataatgcagaaaacatcactgaaatgagagtca c.*540
. . . . . . g.38647
caaatttttcttcagtgtttcagcctgagtaagttacataaacctcgcttagcctccctt c.*600
. . . . . . g.38707
cctgctaatgtgtaaaatacatacttgccctggctacctcaccgggctgttattgctgga c.*660
. . . . . . g.38767
atcagaggagataacatatatggaagataaagtgaataaaagtactttgaaaaactataa c.*720
. . . . . . g.38827
agcattccacaaatatgagatgatggtattatccatccataaataggtagatatatctct c.*780
. . . . . g.38886
attttatagtttcagattaaacaaaactgatatcaatagtaaaagtcattttacttatc c.*839
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 09
©2004-2014 Leiden University Medical Center