(used for variant description)
(last modified December 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_015836.3 in the WARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering WARS2 transcript NM_015836.3.
(upstream sequence)
. . g.5028
caaacaagacggctccgcccttctcaag c.-1
. . . . . . g.5088
ATGGCGCTGCACTCAATGCGGAAAGCGCGTGAGCGCTGGAGCTTCATCCGGGCACTTCAT c.60
M A L H S M R K A R E R W S F I R A L H p.20
. . . | 02 . . . g.69095
AAGGGATCCGCAGCTGCTCCCGCTCTCCAG | AAAGACAGCAAGAAGCGAGTATTTTCCGGC c.120
K G S A A A P A L Q | K D S K K R V F S G p.40
. . . . . . g.69155
ATTCAACCTACAGGAATCCTCCACCTGGGCAATTACCTGGGAGCCATTGAGAGCTGGGTG c.180
I Q P T G I L H L G N Y L G A I E S W V p.60
. . . . . . g.69215
AGGTTACAGGATGAATATGACTCTGTATTATACAGCATTGTTGACCTCCACTCCATTACT c.240
R L Q D E Y D S V L Y S I V D L H S I T p.80
. . . . . . g.69275
GTCCCCCAAGACCCAGCTGTCCTTCGGCAGAGCATCCTGGACATGACTGCTGTTCTTCTT c.300
V P Q D P A V L R Q S I L D M T A V L L p.100
. . . . | 03 . g.100022
GCCTGTGGCATAAACCCGGAAAAAAGCATCCTTTTCCAACAATCTCAG | GTGTCTGAACAC c.360
A C G I N P E K S I L F Q Q S Q | V S E H p.120
. . . . . . g.100082
ACACAATTAAGTTGGATCCTTTCCTGCATGGTCAGACTACCTCGATTACAACATTTACAT c.420
T Q L S W I L S C M V R L P R L Q H L H p.140
| 04 . . . . . g.103374
CAGTGGAAG | GCAAAGACTACCAAGCAGAAGCACGATGGCACGGTGGGCCTGCTCACATAC c.480
Q W K | A K T T K Q K H D G T V G L L T Y p.160
. . . | 05 . . . g.111484
CCAGTACTCCAGGCAGCCGACATTCTGTTGTACAA | GTCCACACACGTTCCTGTTGGGGAG c.540
P V L Q A A D I L L Y K | S T H V P V G E p.180
. . . . . . g.111544
GATCAAGTCCAGCACATGGAACTAGTTCAGGATCTAGCACAAGGTTTCAACAAGAAGTAT c.600
D Q V Q H M E L V Q D L A Q G F N K K Y p.200
. . . | 06 . . . g.112339
GGGGAGTTCTTTCCAGTGCCCGAGTCCATTCTCA | CATCCATGAAGAAGGTAAAATCCCTA c.660
G E F F P V P E S I L T | S M K K V K S L p.220
. . . . . . g.112399
CGTGATCCTTCTGCCAAAATGTCGAAATCAGACCCTGACAAACTGGCCACCGTCCGAATA c.720
R D P S A K M S K S D P D K L A T V R I p.240
. . . . . . g.112459
ACAGACAGCCCAGAGGAGATAGTGCAGAAATTCCGCAAGGCTGTGACAGACTTCACCTCG c.780
T D S P E E I V Q K F R K A V T D F T S p.260
. . . . . . g.112519
GAGGTCACCTATGACCCGGCTGGCCGCGCTGGCGTGTCCAACATAGTGGCGGTGCATGCC c.840
E V T Y D P A G R A G V S N I V A V H A p.280
. . . . . . g.112579
GCGGTGACGGGGCTCTCCGTGGAGGAAGTGGTGCGCCGCAGCGCGGGCATGAACACTGCT c.900
A V T G L S V E E V V R R S A G M N T A p.300
. . . . . . g.112639
CGCTACAAGCTGGCCGTGGCAGATGCTGTGATTGAGAAGTTTGCCCCAATTAAGCGTGAA c.960
R Y K L A V A D A V I E K F A P I K R E p.320
. . . . . . g.112699
ATTGAAAAACTGAAGCTGGACAAGGACCATTTAGAGAAGGTTTTACAAATTGGATCAGCA c.1020
I E K L K L D K D H L E K V L Q I G S A p.340
. . . . . . g.112759
AAAGCCAAAGAATTAGCATACACTGTGTGCCAGGAGGTGAAGAAATTGGTGGGTTTTCTA c.1080
K A K E L A Y T V C Q E V K K L V G F L p.360
g.112762
TAG c.1083
X p.360
. . . . . . g.112822
gaagtttcaacgaatcacagcaaggcttttgtgccttgcactccatgcattctgataacg c.*60
. . . . . . g.112882
gcagctttcctaaaaagaaaaagttatagttttgggacatttaatttggtatagctgatt c.*120
. . . . . . g.112942
attggctttatttgatgaatattgctttgtagctttgaaatacgacagtgttccaaatcc c.*180
. . . . . . g.113002
catcaacaaaatgctgtgaacaacaacaacaaaaaataaatcaagaaggcatagctgtct c.*240
. . . . . . g.113062
gaatccccaattattgaggcacactccttggcctgcagaaatgtgattgaagtaaggagt c.*300
. . . . . . g.113122
aatttgggaaatggagtatcatttgtgcttctctctggagtacttactgtaacagatgca c.*360
. . . . . . g.113182
cacgttatctacttcaacccttttataaagcaatatatagaggtcttagatgtataatcc c.*420
. . . . . . g.113242
ttgagatgccatttgatcagatgccaatttgtattcagagctcataaaaacaagtccatt c.*480
. . . . . . g.113302
cttatagtttgtttgtcactgagacggtgcctgatttaatatatttaagctgcttaactt c.*540
. . . . . . g.113362
gttttccaagagataacaccaactgttccagcaataatttgttttttaattcagagatat c.*600
. . . . . . g.113422
gggatatgatcttctaaggaggttgcattattttgacctgatttatttattgtacaagag c.*660
. . . . . . g.113482
cccaagtccctgaattatattcttaataagtgctttcttgcattcatttcagtttagtct c.*720
. . . . . . g.113542
caccaaccccctatgaattaggagaattattgtcattttacacatgaggaaagtgaggct c.*780
. . . . . . g.113602
gagagaatccaattagcttgtacgatatcactccataagagaagcaaatctgagagtaaa c.*840
. . . . . . g.113662
acccttaccccttattcttaagaatagtgcttgtttattcagtacaaaaaaaatgctgaa c.*900
. . . . . . g.113722
aggcagcgttttttagactctaaacattctgattttgaaggtgggtgttggaacgactga c.*960
. . . . . . g.113782
tgatgttttttatatcatcaattcagccaatggatgcgaacttaaaatctggattcacag c.*1020
. . . . . . g.113842
aaccgtggtcacatttccccatcaaaatccccaaggcgggtcccaagttctctcctctac c.*1080
. . . . . . g.113902
gctcattgcagaaatactttgaaataggttctgccagtctacaatagcagtgaagactga c.*1140
. . . . . . g.113962
caaatcagatattcccaatgactgacagcttctcatcttgcctctacctcagttaagtaa c.*1200
. . . . . . g.114022
tgtcaccctgaaacctagcttttctgcacttccatttctgacacctgaaaatgaaaatga c.*1260
. . . . . . g.114082
taatcctaacttatacaccaagacctgttagcaagatcgattttgtaacagaaattgctt c.*1320
. . . . . . g.114142
ataagttttttatcagtaaggaccatgatcaccatttgtacatacataactaggttgttg c.*1380
. . . . . . g.114202
agcaaagcatttttgctcatgtttcttaaggaagtagagtagtccttgtgtcagaacaca c.*1440
. . . . . . g.114262
tgttaatccacaaaacgccccatcccagattccaaattaaaacatcgtttttaggattct c.*1500
. . . . . . g.114322
tggagctagcctggatcatgggtaaaggaaacattttgccttttgtatcttatactggaa c.*1560
. . . . . . g.114382
tgggatgtctgtaagtcctagaacctctttgagcatatttcttacaagcctctgtttttt c.*1620
. . . . . . g.114442
cccctttaaaggaaactttgaaaggattgtgaatactggaaaatgacaaaactaaaggta c.*1680
. g.114457
gatctatcaagccaa c.*1695
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 17c
©2004-2016 Leiden University Medical Center