(used for variant description)
(last modified October 11, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_024678.5 in the NARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering NARS2 transcript NM_024678.5.
(upstream sequence)
. g.5016
gtagcgtgatgacgta c.-361
. . . . . . g.5076
agcggcgttggcgtggtgtggtaggagtggttgcgcgtgttgcggcccgggttctgttcg c.-301
. . . . . . g.5136
taggtttacaattgtcgcgggtagtggggcgccccagctgccaactgcacgtggtttctt c.-241
. . . . . . g.5196
tctggcgtttgcctagtgtcctgtccattccgccccgttgggaagtgggaagcggagagg c.-181
. . . . . . g.5256
ttctgtggggacagagctgggagtcctgaaggagaaagcgcgcagccgaggggctctgga c.-121
. . . . . . g.5316
gtgccttagagcagagctgcggccgcggaaggggagcagctgagaaaggagggccgctgc c.-61
. . . . . . g.5376
aggcggggttcgaaccgtggggtctgggctgctcccgcggagggcctgggcggacgcggg c.-1
. . . . . . g.5436
ATGCTGGGGGTCCGCTGCCTGCTGCGGTCCGTGCGCTTCTGTTCCTCCGCCCCCTTCCCC c.60
M L G V R C L L R S V R F C S S A P F P p.20
. . . . . . g.5496
AAGCACAAACCTTCAGCCAAACTGAGCGTGCGGGACGCTCTCGGGGCTCAGAACGCGAGT c.120
K H K P S A K L S V R D A L G A Q N A S p.40
. . | 02 . . . . g.8459
GGGGAGCGCATTAAGATCCAG | GGATGGATTCGTTCTGTCCGATCCCAGAAGGAAGTCTTG c.180
G E R I K I Q | G W I R S V R S Q K E V L p.60
. . . . . . g.8519
TTCCTGCATGTAAATGATGGGTCATCTTTGGAAAGCCTTCAGGTTGTTGCAGATTCAGGC c.240
F L H V N D G S S L E S L Q V V A D S G p.80
. | 03 . . . . . g.11160
CTTGACAGTAG | AGAATTAAATTTTGGGAGTTCTGTGGAAGTACAAGGGCAGCTGATAAAA c.300
L D S R | E L N F G S S V E V Q G Q L I K p.100
. . . . . . g.11220
AGTCCATCCAAAAGGCAAAATGTGGAACTGAAGGCAGAAAAAATTAAAGTTATTGGAAAT c.360
S P S K R Q N V E L K A E K I K V I G N p.120
. | 04 . . . . . g.13639
TGTGATGCCAAG | GATTTCCCCATCAAATATAAAGAGAGGCATCCTCTGGAGTATCTGCGA c.420
C D A K | D F P I K Y K E R H P L E Y L R p.140
. . . . . . g.13699
CAATATCCTCACTTTAGGTGTAGGACTAACGTTCTGGGTTCTATATTGAGGATTCGCAGT c.480
Q Y P H F R C R T N V L G S I L R I R S p.160
. . . | 05 . . . g.20271
GAAGCGACAGCTGCTATTCATTCTTTCTTTAAG | GACAGTGGCTTTGTACATATTCATACT c.540
E A T A A I H S F F K | D S G F V H I H T p.180
. . . . . | 06 . g.50933
CCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAA | CCTTCA c.600
P I I T S N D S E G A G E L F Q L E | P S p.200
. . . . . . g.50993
GGCAAACTTAAGGTACCTGAGGAGAATTTCTTCAATGTTCCTGCTTTCTTAACTGTCTCA c.660
G K L K V P E E N F F N V P A F L T V S p.220
. . | 07 . . . g.86699
GGACAACTTCATCTAGAAGTGATGTCAGG | AGCTTTTACTCAAGTGTTTACCTTTGGTCCG c.720
G Q L H L E V M S G | A F T Q V F T F G P p.240
. . . . . . g.86759
ACCTTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACCTGGCAGAGTTTTATATGATAGAA c.780
T F R A E N S Q S R R H L A E F Y M I E p.260
. . . . | 08 . . g.101198
GCAGAGATTTCTTTTGTTGACAGCCTTCAAGATCTTATGCAG | GTTATAGAGGAACTGTTC c.840
A E I S F V D S L Q D L M Q | V I E E L F p.280
. . . . . . g.101258
AAGGCTACAACAATGATGGTTCTCTCAAAATGTCCTGAAGATGTTGAACTCTGTCACAAA c.900
K A T T M M V L S K C P E D V E L C H K p.300
. . | 09 . . . | 10 g.110551
TTCATAGCACCTGGCCAAAAG | GACAGATTAGAACATATGCTAAAAAACAACTTTTTAAT | C c.960
F I A P G Q K | D R L E H M L K N N F L I | p.320
. . . . . . g.110611
ATTTCTTATACTGAAGCAGTGGAGATCTTAAAGCAAGCATCCCAGAACTTCACCTTTACC c.1020
I S Y T E A V E I L K Q A S Q N F T F T p.340
| 11 . . . . . . g.113904
CCAGAG | TGGGGTGCTGACCTACGGACTGAACATGAAAAGTACCTGGTGAAGCACTGTGGC c.1080
P E | W G A D L R T E H E K Y L V K H C G p.360
. . . . . . g.113964
AACATACCTGTCTTCGTTATTAATTATCCATTAACACTCAAGCCTTTCTACATGAGGGAT c.1140
N I P V F V I N Y P L T L K P F Y M R D p.380
. . | 12 . . . . g.136141
AATGAAGATGGCCCTCAGCACACG | GTTGCTGCTGTTGATCTTCTGGTTCCTGGAGTTGGG c.1200
N E D G P Q H T | V A A V D L L V P G V G p.400
. . . . . . g.136201
GAACTCTTTGGAGGAGGCCTCAGAGAAGAACGATACCATTTCTTAGAGGAGCGCTTAGCC c.1260
E L F G G G L R E E R Y H F L E E R L A p.420
| 13 . . | 14 . . . g.143080
AG | ATCGGGACTTACAGAAGTCTACCAATG | GTATCTGGACCTTCGTCGATTTGGATCTGTG c.1320
R | S G L T E V Y Q W | Y L D L R R F G S V p.440
. . . . . . g.143140
CCACATGGAGGTTTTGGGATGGGATTTGAACGCTACCTGCAGTGCATCTTGGGTGTTGAC c.1380
P H G G F G M G F E R Y L Q C I L G V D p.460
. . . . . g.143194
AATATCAAAGATGTTATCCCTTTCCCAAGGTTTCCTCATTCATGCCTTTTATAG c.1434
N I K D V I P F P R F P H S C L L X p.477
. . . . . . g.143254
ctggaagattggttaaggaaaagcaccccccatggcagagacactgcacatgattgtgca c.*60
. . . . . . g.143314
tacagcagaatgcatgtttggattttagaaatgcagatttcaatatgtaattgttgtgcc c.*120
. . . . . . g.143374
ataagatatcatagaaaaaatataagtggttgtgattttcttagaaagttgagggtattt c.*180
. . . . . . g.143434
cacgtaaggatgagctcccgcaagaagaggtacttatagcaaggggactctcaaatccat c.*240
. . . . . . g.143494
tacctcaattaagaaatgaagaaattgaattagtctcaaagtttcttttaaactctaaaa c.*300
. . . . . . g.143554
cagaatgagataatgtattttacgttgtctataatcattaaatcactccctgtgtaattt c.*360
. . . . . . g.143614
gtgagaaccatctagtagctcgaaataaaataatgttgcatcttttctcccttgccatat c.*420
. . . . . . g.143674
actttgtgataaatccttatctcattttcagtacttcattaaacattgcagaaaaaaata c.*480
. . . . . . g.143734
ttccttaaggtcttaattgatttaaagaagtagctattctgaattgaaatctcctttcat c.*540
. . . . . . g.143794
tgaactggatgaaaaaatcatgtttaataactgttgcttttcaattttcaaagctgttga c.*600
. . . . . . g.143854
gatattacattaagtatttcaactctttaatcactgttgttataatttgtttatatttga c.*660
. . . . g.143903
tgtttataatttgtctaataaaatagatttttttaatagacacctatgg c.*709
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2014 Leiden University Medical Center