(used for variant description)
(last modified July 9, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000487.5 in the ARSA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009260.2, covering ARSA transcript NM_000487.5.
(upstream sequence)
. . . g.5034
cacaggtcacggggcggggccgaggcggaagcgc c.-361
. . . . . . g.5094
ccgcagcccggtaccggctcctcctgggctccctctagcgccttccccccggcccgactc c.-301
. . . . . . g.5154
cgctggtcagcgccaagtgacttacgcccccgaccctgagcccggaccgctaggcgagga c.-241
. . . . . . g.5214
ggatcagatctccgctcgagaatctgaaggtgccctggtcctggaggagttccgtcccag c.-181
. . . . . . g.5274
cccgcggtctcccggtactgtcgggccccggccctctggagcttcaggaggcggccgtca c.-121
. . . . . . g.5334
gggtcggggagtatttgggtccggggtctcagggaagggcggcgcctgggtctgcggtat c.-61
. . . . . . g.5394
cggaaagagcctgctggagccaagtagccctccctctcttgggacagacccctcggtccc c.-1
. . . . . . g.5454
ATGTCCATGGGGGCACCGCGGTCCCTCCTCCTGGCCCTGGCTGCTGGCCTGGCCGTTGCC c.60
M S M G A P R S L L L A L A A G L A V A p.20
. . . . . . g.5514
CGTCCGCCCAACATCGTGCTGATCTTTGCCGACGACCTCGGCTATGGGGACCTGGGCTGC c.120
R P P N I V L I F A D D L G Y G D L G C p.40
. . . . . . g.5574
TATGGGCACCCCAGCTCTACCACTCCCAACCTGGACCAGCTGGCGGCGGGAGGGCTGCGG c.180
Y G H P S S T T P N L D Q L A A G G L R p.60
. . . . | 02 . . g.5783
TTCACAGACTTCTACGTGCCTGTGTCTCTGTGCACACCCTCTAG | GGCCGCCCTCCTGACC c.240
F T D F Y V P V S L C T P S R | A A L L T p.80
. . . . . . g.5843
GGCCGGCTCCCGGTTCGGATGGGCATGTACCCTGGCGTCCTGGTGCCCAGCTCCCGGGGG c.300
G R L P V R M G M Y P G V L V P S S R G p.100
. . . . . . g.5903
GGCCTGCCCCTGGAGGAGGTGACCGTGGCCGAAGTCCTGGCTGCCCGAGGCTACCTCACA c.360
G L P L E E V T V A E V L A A R G Y L T p.120
. . . . . . g.5963
GGAATGGCCGGCAAGTGGCACCTTGGGGTGGGGCCTGAGGGGGCCTTCCTGCCCCCCCAT c.420
G M A G K W H L G V G P E G A F L P P H p.140
. . . . | 03 . . g.6136
CAGGGCTTCCATCGATTTCTAGGCATCCCGTACTCCCACGACCAG | GGCCCCTGCCAGAAC c.480
Q G F H R F L G I P Y S H D Q | G P C Q N p.160
. . . . . . g.6196
CTGACCTGCTTCCCGCCGGCCACTCCTTGCGACGGTGGCTGTGACCAGGGCCTGGTCCCC c.540
L T C F P P A T P C D G G C D Q G L V P p.180
. . . . . . g.6256
ATCCCACTGTTGGCCAACCTGTCCGTGGAGGCGCAGCCCCCCTGGCTGCCCGGACTAGAG c.600
I P L L A N L S V E A Q P P W L P G L E p.200
. . . . . . g.6316
GCCCGCTACATGGCTTTCGCCCATGACCTCATGGCCGACGCCCAGCGCCAGGATCGCCCC c.660
A R Y M A F A H D L M A D A Q R Q D R P p.220
. . | 04 . . . . g.6449
TTCTTCCTGTACTATGCCTCTCAC | CACACCCACTACCCTCAGTTCAGTGGGCAGAGCTTT c.720
F F L Y Y A S H | H T H Y P Q F S G Q S F p.240
. . . . . . g.6509
GCAGAGCGTTCAGGCCGCGGGCCATTTGGGGACTCCCTGATGGAGCTGGATGCAGCTGTG c.780
A E R S G R G P F G D S L M E L D A A V p.260
. . . . . . g.6569
GGGACCCTGATGACAGCCATAGGGGACCTGGGGCTGCTTGAAGAGACGCTGGTCATCTTC c.840
G T L M T A I G D L G L L E E T L V I F p.280
. | 05 . . . . . g.6941
ACTGCAGACAATGG | ACCTGAGACCATGCGTATGTCCCGAGGCGGCTGCTCCGGTCTCTTG c.900
T A D N G | P E T M R M S R G G C S G L L p.300
. . . . . . g.7001
CGGTGTGGAAAGGGAACGACCTACGAGGGCGGTGTCCGAGAGCCTGCCTTGGCCTTCTGG c.960
R C G K G T T Y E G G V R E P A L A F W p.320
. | 06 . . . . g.7151
CCAGGTCATATCGCTCCCG | GCGTGACCCACGAGCTGGCCAGCTCCCTGGACCTGCTGCCT c.1020
P G H I A P G | V T H E L A S S L D L L P p.340
. . . . . . g.7211
ACCCTGGCAGCCCTGGCTGGGGCCCCACTGCCCAATGTCACCTTGGATGGCTTTGACCTC c.1080
T L A A L A G A P L P N V T L D G F D L p.360
. . | 07. . . . g.7525
AGCCCCCTGCTGCTGGGCACAGGCAAG | AGCCCTCGGCAGTCTCTCTTCTTCTACCCGTCC c.1140
S P L L L G T G K | S P R Q S L F F Y P S p.380
. . . . . . g.7585
TACCCAGACGAGGTCCGTGGGGTTTTTGCTGTGCGGACTGGAAAGTACAAGGCTCACTTC c.1200
Y P D E V R G V F A V R T G K Y K A H F p.400
. | 08 . . . . . g.7759
TTCACCCAGG | GCTCTGCCCACAGTGATACCACTGCAGACCCTGCCTGCCACGCCTCCAGC c.1260
F T Q G | S A H S D T T A D P A C H A S S p.420
. . . . . . g.7819
TCTCTGACTGCTCATGAGCCCCCGCTGCTCTATGACCTGTCCAAGGACCCTGGTGAGAAC c.1320
S L T A H E P P L L Y D L S K D P G E N p.440
. . . . . . g.7879
TACAACCTGCTGGGGGGTGTGGCCGGGGCCACCCCAGAGGTGCTGCAAGCCCTGAAACAG c.1380
Y N L L G G V A G A T P E V L Q A L K Q p.460
. . . . . . g.7939
CTTCAGCTGCTCAAGGCCCAGTTAGACGCAGCTGTGACCTTCGGCCCCAGCCAGGTGGCC c.1440
L Q L L K A Q L D A A V T F G P S Q V A p.480
. . . . . . g.7999
CGGGGCGAGGACCCCGCCCTGCAGATCTGCTGTCATCCTGGCTGCACCCCCCGCCCAGCT c.1500
R G E D P A L Q I C C H P G C T P R P A p.500
. . . g.8029
TGCTGCCATTGCCCAGATCCCCATGCCTGA c.1530
C C H C P D P H A X p.509
. . . . . . g.8089
gggcccctcggctggcctgggcatgtgatggctcctcactgggagcctgtgggggaggct c.*60
. . . . . . g.8149
caggtgtctggagggggtttgtgcctgataacgtaataacaccagtggagacttgcagat c.*120
. . . . . . g.8209
gtgacaattcgtccaatcctggggtaatgctgtgtgctggtgccggtcccctgtggtacg c.*180
. . . . . . g.8269
aatgaggaaactgaggtgcagagaggttcaggacttgtacaagatcacccagccagaaag c.*240
. . . . . . g.8329
aggttgggctgggatttgaaccctggtgtcgtggctctggaagctgccctggcgccttgg c.*300
. . . . . . g.8389
tgatctgcgtgggtcagtgcacacaggcacacgtcagcctcaaggacatgggcacatctg c.*360
. . . . . . g.8449
ttcacaggagcagcgccacgtgcctttgagtgccaggaacggggtgggagggtgggaggg c.*420
. . . . . . g.8509
tgtgagggccagaagactcagaagatgcaaagtgcctgagagagacgggatattccccca c.*480
. . . . . . g.8569
gaagaagcattcttagagacacaggcactggacctccttggttcttataagaaacctgtc c.*540
. . . . . . g.8629
tgaagctgggtgatgagttgcacactccaggtggggctaaggggcctggagcccctgctg c.*600
. . . . . . g.8689
gctcctaggaaggcacagcagcaggccctgagacggctcctctggggcccctccaccctc c.*660
. . . . . . g.8749
ccaggcctctgcatttcacctgtgcccacacttctgtctcctgccttcaccttttgaccc c.*720
. . . . . . g.8809
actactaacgattctccacccagcagacaaagtgatctcttaaaaatatctgttggctgg c.*780
. . . . . . g.8869
gcacggtggctcacgcctgtaatcccagcactttaggaagccgaggcgggtggatcacct c.*840
. . . . . . g.8929
gaggtcgggagttcgagaccagcctgaccaacatggagaaaccccatctctactaaaaat c.*900
. . . . . . g.8989
acaaaattagccaggtgtagtggtgcatccctgtaatcccagctacttgggagtctgagg c.*960
. . . . . . g.9049
ctggagaatcacttgaacctgggaggcggtggttgcagtgagccgagatcgcaccattgc c.*1020
. . . . . . g.9109
actccagcctgggcaacaagagaaaaactctgtctcaaaaaacaaaaaatctgttaggct c.*1080
. . . . . . g.9169
gcacacggcgattcactcctgtattcccagtgctttgggaggctgaggtgagaggatgcc c.*1140
. . . . . . g.9229
tgaggccaggaattcagaccagcctgggcaacatagtgagaccccagctctaaagatttg c.*1200
. . . . . . g.9289
tttttgttttttttttttttttttttttttttttttttttttttttgagacggagtctcg c.*1260
. . . . . . g.9349
ctctgtcgcccaggctagagtgcagtggtaccatctccgctcactgcaacctccgcctcc c.*1320
. . . . . . g.9409
cgggttccagggattctcctgcctcagcctccctagtagctggaactacaggtgtgtgct c.*1380
. . . . . . g.9469
gccatgcccagctaatttttttttatttaatagagacaagatttcaccatgttggccagg c.*1440
. . . . . . g.9529
ctggtctcaaactcctgacctcaggtgatccacccgcctcagcctcccaaagtgctggga c.*1500
. . . . . . g.9589
ttacaggtgtgaaccaccacacctggccaacaatatttgttttaattagccaggcgtggt c.*1560
. . . . . . g.9649
agcatttgtcctagcaatttgggaggttgaggtgggagaatcacttcagcccactaggtc c.*1620
. . . . . . g.9709
gaggctgtagtgagctataattgtaccactgcactccagcctcggggacagagtgagacc c.*1680
. . . . . . g.9769
ctgtctgcaaataaacaaataaaacatcaggctgggcttgagcatctattcctgctcaaa c.*1740
. . . . . . g.9829
atttcgcaggcttctcagaagaaaatccaaaccccttacagtgacccagtttgcccttga c.*1800
. . . . . . g.9889
ggcctccacccacacccccttccccccagtcttagggggtggcctggctgttcccttcaa c.*1860
. . . . . . g.9949
cggcaacgctctgcctccattgttggcctcctctgcagggagggactgtctgagcacctg c.*1920
. . . . . . g.10009
cccgtgtctgtgcagcatggcacactgacgtcaggcccacgtgcatgcccaggtggccag c.*1980
. . . . . . g.10069
tcacacgccaggtgctccctcagtgttggccaagtgagaggagcacaccttccgggcgtt c.*2040
. . . . . . g.10129
cagacacctccccgtggcagacaccgttcgttgctaccaaacagccacctccttcctaat c.*2100
. . . . . . g.10189
gggctcccatttttcagtgctgggcaaaggtcccttgatcttggagttgcagcctctttc c.*2160
. . . . . . g.10249
tctccaaggagggcggtgaccagcctgagccagtcaatccagtgattggttcaggagtag c.*2220
. . . . . . g.10309
cctgtgaccaggagtcctggtagtgaacgactggggcagccctgggggtgaggaccttgc c.*2280
. . . . . . g.10369
gcagccgtcacaggccctgattggacactgggcagctgctaacccagtgtctccagctgc c.*2340
. . . . . g.10420
ctacctggagagctccaagcgtaagaaaataaaccctgcctgttgaagcca c.*2391
(downstream sequence)
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