(used for variant description)
(last modified May 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001669.3 in the ARSD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012495.1, covering ARSD transcript NM_001669.3.
(upstream sequence)
. . . . g.5016
cccagatcccgcagctgagagggcggaagccttggcacta c.-61
. . . . . . g.5076
gcggcgcccgggcgcggagtgcgcagggcaaggtcctgcgctctgggccagcgctcggcc c.-1
. . . . | 02 . . g.8602
ATGCGATCCGCCGCGCGGAGGGGACGCGCCGCGCCCGCCGCCAG | GGACTCTTTGCCGGTG c.60
M R S A A R R G R A A P A A R | D S L P V p.20
. . . . . . g.8662
CTACTGTTTTTATGCTTGCTTCTGAAGACGTGTGAACCTAAAACTGCAAATGCCTTTAAA c.120
L L F L C L L L K T C E P K T A N A F K p.40
. . . . . . g.8722
CCAAATATCCTACTGATCATGGCGGATGATCTAGGCACTGGGGATCTCGGTTGCTACGGG c.180
P N I L L I M A D D L G T G D L G C Y G p.60
. | 03 . . . . . g.12373
AACAATACACTGAG | AACGCCGAATATTGACCAGCTTGCAGAGGAAGGTGTGAGGCTCACT c.240
N N T L R | T P N I D Q L A E E G V R L T p.80
. . . . . . g.12433
CAGCACCTGGCGGCCGCCCCGCTCTGCACCCCAAGCCGAGCTGCATTCCTCACAGGGAGA c.300
Q H L A A A P L C T P S R A A F L T G R p.100
. | 04 . . . . . g.13672
CATTCCTTCAGATCAG | GCATGGACGCCAGCAATGGATACCGGGCCCTTCAGTGGAACGCA c.360
H S F R S G | M D A S N G Y R A L Q W N A p.120
. . . . . . g.13732
GGCTCAGGTGGACTCCCTGAGAACGAAACCACTTTTGCAAGAATCTTGCAGCAGCATGGC c.420
G S G G L P E N E T T F A R I L Q Q H G p.140
. | 05 . . . . g.16165
TATGCAACCGGCCTCATAG | GAAAATGGCACCAGGGTGTGAATTGTGCATCCCGCGGGGAT c.480
Y A T G L I G | K W H Q G V N C A S R G D p.160
. . . . . . g.16225
CACTGCCACCACCCCCTGAACCACGGATTTGACTATTTCTACGGCATGCCCTTCACGCTC c.540
H C H H P L N H G F D Y F Y G M P F T L p.180
. . . . . . g.16285
ACAAACGACTGTGACCCAGGCAGGCCCCCCGAAGTGGACGCCGCCCTGAGGGCGCAGCTC c.600
T N D C D P G R P P E V D A A L R A Q L p.200
. . . . . . g.16345
TGGGGTTACACCCAGTTCCTGGCGCTGGGGATTCTCACCCTGGCTGCCGGCCAGACCTGC c.660
W G Y T Q F L A L G I L T L A A G Q T C p.220
. . . . . . g.16405
GGTTTCTTCTCTGTCTCCGCGAGAGCAGTCACCGGCATGGCCGGCGTGGGCTGCCTGTTT c.720
G F F S V S A R A V T G M A G V G C L F p.240
. . . . . . g.16465
TTCATCTCTTGGTACTCCTCCTTCGGGTTTGTGCGACGCTGGAACTGTATCCTGATGAGA c.780
F I S W Y S S F G F V R R W N C I L M R p.260
. . . . . . g.16525
AACCATGACGTCACGGAGCAACCCATGGTTCTGGAGAAAACAGCGAGTCTTATGCTAAAG c.840
N H D V T E Q P M V L E K T A S L M L K p.280
. . | 06 . . . . g.18696
GAAGCTGTTTCCTATATTGAAAG | ACACAAGCATGGGCCATTTCTCCTCTTCCTTTCTTTG c.900
E A V S Y I E R | H K H G P F L L F L S L p.300
. . . . . . g.18756
CTGCATGTGCACATTCCCCTTGTGACCACGAGTGCATTCCTGGGGAAAAGTCAGCATGGC c.960
L H V H I P L V T T S A F L G K S Q H G p.320
. . . . | 07 . . g.23578
TTATATGGTGATAATGTGGAGGAGATGGACTGGCTCATAG | GTAAGGTTCTTAATGCCATC c.1020
L Y G D N V E E M D W L I G | K V L N A I p.340
. . . . . . g.23638
GAAGACAATGGTTTAAAGAACTCAACATTCACGTATTTCACCTCTGACCATGGAGGACAT c.1080
E D N G L K N S T F T Y F T S D H G G H p.360
. . . . . | 08 . g.24377
TTAGAGGCAAGAGATGGACACAGCCAGTTAGGGGGATGGAACGGAATTTACAAAG | GTGGG c.1140
L E A R D G H S Q L G G W N G I Y K G | G p.380
. . . . . . g.24437
AAGGGCATGGGAGGATGGGAAGGTGGGATCCGCGTGCCCGGGATCTTCCACTGGCCGGGG c.1200
K G M G G W E G G I R V P G I F H W P G p.400
. . . . . . g.24497
GTGCTCCCGGCCGGCCGAGTGATTGGAGAGCCCACGAGCCTGATGGACGTGTTCCCTACT c.1260
V L P A G R V I G E P T S L M D V F P T p.420
. . . | 09 . . g.25531
GTGGTCCAGCTGGTGGGTGGCGAGGTGCCCCAGGACAG | GGTGATTGATGGCCACAGCCTG c.1320
V V Q L V G G E V P Q D R | V I D G H S L p.440
. . . . . . g.25591
GTACCCTTGCTGCAGGGAGCTGAGGCACGCTCGGCACATGAGTTCCTGTTTCATTACTGT c.1380
V P L L Q G A E A R S A H E F L F H Y C p.460
. . . . | 10 . . g.26739
GGGCAGCATCTTCACGCAGCACGCTGGCACCAGAAGGACA | GTGGAAGCGTCTGGAAGGTT c.1440
G Q H L H A A R W H Q K D S | G S V W K V p.480
. . . . . . g.26799
CATTACACGACCCCGCAGTTCCACCCCGAGGGAGCGGGGGCCTGCTACGGCCGAGGCGTC c.1500
H Y T T P Q F H P E G A G A C Y G R G V p.500
. . . . . . g.26859
TGCCCATGCTCCGGGGAGGGCGTGACCCATCACAGACCCCCTTTGCTCTTTGACCTCTCC c.1560
C P C S G E G V T H H R P P L L F D L S p.520
. . . . . . g.26919
AGGGACCCCTCCGAGGCACGGCCCCTGACCCCCGACTCCGAGCCCCTGTACCACGCCGTG c.1620
R D P S E A R P L T P D S E P L Y H A V p.540
. . . . . . g.26979
ATAGCAAGGGTAGGTGCCGCGGTGTCGGAGCATCGGCAGACCCTGAGTCCTGTGCCCCAG c.1680
I A R V G A A V S E H R Q T L S P V P Q p.560
. . . . . . g.27039
CAGTTTTCCATGAGCAACATCCTGTGGAAGCCGTGGCTGCAGCCGTGCTGCGGACATTTC c.1740
Q F S M S N I L W K P W L Q P C C G H F p.580
. . . . g.27081
CCGTTCTGTTCATGCCACGAGGATGGGGATGGCACCCCCTGA c.1782
P F C S C H E D G D G T P X p.593
. . . . . . g.27141
atgccaggactgtgagagaggatccaggagagcctgactgcgttgcaaacaaaattctcc c.*60
. . . . . . g.27201
aagcttggttctatcttcagcttccctttttgcaaggaacatgccctggactgagagtgg c.*120
. . . . . . g.27261
gtccccactttctttctttctttctttcttttttgagacagagtgtcgctctgtccctca c.*180
. . . . . . g.27321
ggctggaatgcaatggcacgatctctgctcactgcaacctccgcctcccgggttcaagcg c.*240
. . . . . . g.27381
attttcctgcctcagcctcctgagtacccaggattacaggcaccaggcacctgccaccat c.*300
. . . . . . g.27441
gcctagctaatttttgtagttttagtagagacagggtttcaccatgttgcccaggctggt c.*360
. . . . . . g.27501
ctcgcactcctgacctcaagtcatccacctgcctcagcctcccaaagtgctgggattaca c.*420
. . . . . . g.27561
ggcacgagccactgcgcccatgtagggtttccctttcctgatttgtgaaataagactgtc c.*480
. . . . . . g.27621
ccagtaggcacccactgatgcctcctcttcctcttctaaatctcagggttcgtcattgtg c.*540
. . . . . . g.27681
ccaatgcccgatgttttcacccctccgtcttaaagcattgttgcaatttcatcacctaga c.*600
. . . . . . g.27741
tgacataacagccttacaaaaggacagggaggagtgtctgttcctactctcacatagcgg c.*660
. . . . . . g.27801
aggaaagttagagcctctcagtctctgtttatgaggactcattaatctcaaataattgat c.*720
. . . . . . g.27861
gcatttttcatacattagggtctctgtccatgtgtcttcctgatattgttatagaaatgg c.*780
. . . . . . g.27921
cttcaggctgctggtaacagatgctgcggaaaaagaatgccttaaacaaagccaggcacg c.*840
. . . . . . g.27981
gtgactcacacctgtaatcccagcactttgggaggctaaggtgggaggatcacttgagcc c.*900
. . . . . . g.28041
taggagttagacacctacccagcctgagcaacacagtgagacctcatctctacaaaaaac c.*960
. . . . . . g.28101
aaataattagctagatgtcgtggcgcacagctgtagtctcagctacttaggaggctgagg c.*1020
. . . . . . g.28161
cgggaggattatttgagcctgggaggtcaaaactgcaatgagctaagattgcactactgc c.*1080
. . . . . . g.28221
actccgggctgggagacagagtaagaccctgccttaaaaaaaaaaaaaaaaaaatgcctt c.*1140
. . . . . . g.28281
aaagaaaataataagagaagggtgtgttctcttccaagtaatgagccgatcaaggggaag c.*1200
. . . . . . g.28341
caacccaaggctagcaggctcttttcaattcccagctctgccactcttagcatggcagag c.*1260
. . . . . . g.28401
agttggcctcattatgccagtatggctgccacagtgtcagacatcacattccaggcagtg c.*1320
. . . . . . g.28461
gaaaggagaaagaaccaaagggcatccctttctcttgaagcagtccctgtgaggggggat c.*1380
. . . . . . g.28521
tatctggaagccccaacccaatttctgcttccaaccattatccatagaaacaactggaag c.*1440
. . . . . . g.28581
ttgagaagtgcagtcttttaggtgggcacctggctgccctgtatgaaaccagaattaggt c.*1500
. . . . . . g.28641
tggtcagcaggaaaacaagaaaacacttactgtgttgactgaggtttttgacgcatcgct c.*1560
. . . . . . g.28701
ttattgtcaaattaaacaactctatctcattctgcactgaaacacgtactaccattgcct c.*1620
. . . . . . g.28761
ataattggaaaatgatcctcagaggcacagaagatgccctgatggaaagtttgccccttg c.*1680
. . . . . . g.28821
ggcaaagagacagccatgggaaccttcagacatagagagagaaggtggcttttctcccta c.*1740
. . . . . . g.28881
cattcctcaaatagctaagatttggccagtgtgttttctaagtcaattctagtgtgtttc c.*1800
. . . . . . g.28941
atcctcacctcttccctctgtggctttgatgatggaagtgtagtcctaacctactgcaca c.*1860
. . . . . . g.29001
gctgggaccccctgcccctagatcccaatactggggatgggaggaccttgcactattccc c.*1920
. . . . . . g.29061
ctcagtccatctatcgaggtctttgcaggaagcatactgggaattgaaacgagagcctaa c.*1980
. . . . . . g.29121
atgacatctaagaaaggcagtgttcaataccaggtattaggtgaggatgggattctaagg c.*2040
. . . . . . g.29181
acatcagtgggaggcagggagccaccttcagacctcagcatggaagcttccaagatccag c.*2100
. . . . . . g.29241
aggaagaggcaacagcactgagagtcataggtagaagaatcatcacagccctgctaacca c.*2160
. . . . . . g.29301
ggcagctgatgcccctctcccctggctccctgtgtccaaatcctacaggggcatctgttg c.*2220
. . . . . . g.29361
gctgaactcaacctgaagccaaagagaagatgagtggagagaggcaacatttatagagct c.*2280
. . . . . . g.29421
caggtttctagggctggagagggatctggagggacacacaggagacacctggcataacca c.*2340
. . . . . . g.29481
aaaaatgattaaaaaaaaaaaaaaaaagaaacatctatggagcatgggacacggggagtg c.*2400
. . . . . . g.29541
gaggcagctaaaagccatctcatctttcaccgtattcaacaagcccattataacaagtct c.*2460
. . . . . . g.29601
ttcacgctcaaccattcaaacaatcccaacaatcccagcctaagaatttcctggcatttg c.*2520
. . . . . . g.29661
atgaaaatggctgtgggttttgctatctttaagctccctgggaagcaggatataagccca c.*2580
. . . . . . g.29721
gggctggcaggctctttctagctacctgctcttgcacatagagtttgcctcatggttgca c.*2640
. . . . . . g.29781
agaaggctgccatagctccagatggcacatagacattccaggcagcaggaaaaaggaagg c.*2700
. . . . . . g.29841
agcacttaaccgaaggaggtcagggagttggttagtctccacctgaagaagagagccatg c.*2760
. . . . . . g.29901
aaccagcttcagttgactaacgggctcctgtgagtgcatctttggacttttctggaggtt c.*2820
. . . . . . g.29961
gaaatctagatgtggtatgtgtcttaaagcagccaccaactcctcccattaccttccaag c.*2880
. . . . . . g.30021
tgagcccaactacacgatggagcctcttccctgcccttggatctgggctgagcctctgac c.*2940
. . . . . . g.30081
ttgcgttgaccaacagaatgcagtgaaagtgatgccgatactaccctccctgccctagac c.*3000
. . . . . . g.30141
ttgggatacctggcagctatattcttccattcctcaggacttgcaaaaacgggtctcagc c.*3060
. . . . . . g.30201
atgccttcccagagccatgaggtgtttctttgcccattcattgatctgagaagtgagtgt c.*3120
. . . . . . g.30261
aaggagtttaaatcaacctctgttctgtgctagttaaggtaataaagttgctgcagtcca c.*3180
. . . . . . g.30321
gggggtaggtacctgtggacggctctgcgaataggacagttgcatttcttgggaatcaag c.*3240
. . . . . . g.30381
tgcatccctaggctggcagtgcagcagaaatactgaataaaatgtgacaaatctccctgg c.*3300
g.30382
a c.*3301
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center