(used for mutation description)
(last modified June 1, 2010)
This file was created to facilitate the description of sequence variants in the ARSD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering ARSD transcript NM_001669.2.
(upstream sequence)
. g.5015
ggaagccttggcacta c.-61
. . . . . . g.5075
gcggcgcccgggcgcggagtgcgcagggcaaggtcctgcgctctgggccagcgctcggcc c.-1
. . . . | 02 . . g.8601
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.8661
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.8721
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.12372
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.12432
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.13671
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.13731
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.16164
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.16224
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.16284
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.16344
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.16404
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.16464
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.16524
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.18695
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.18755
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.23577
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.23637
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.24376
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.24436
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.24496
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.25530
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.25590
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.26738
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.26798
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.26858
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.26918
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.26978
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.27038
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.27080
CCGTTCTGTTCATGCCACGAGGATGGGGATGGCACCCCCTGA c.1782
P F C S C H E D G D G T P X p.593
. . . . . . g.27140
atgccaggactgtgagagaggatccaggagagcctgactgcgttgcaaacaaaattctcc c.*60
. . . . . . g.27200
aagcttggttctatcttcagcttccctttttgcaaggaacatgccctggactgagagtgg c.*120
. . . . . . g.27260
gtccccactttctttctttctttctttcttttttgagacagagtgtcgctctgtccctca c.*180
. . . . . . g.27320
ggctggaatgcaatggcacgatctctgctcactgcaacctccgcctcccgggttcaagcg c.*240
. . . . . . g.27380
attttcctgcctcagcctcctgagtacccaggattacaggcaccaggcacctgccaccat c.*300
. . . . . . g.27440
gcctagctaatttttgtagttttagtagagacagggtttcaccatgttgcccaggctggt c.*360
. . . . . . g.27500
ctcgcactcctgacctcaagtcatccacctgcctcagcctcccaaagtgctgggattaca c.*420
. . . . . . g.27560
ggcacgagccactgcgcccatgtagggtttccctttcctgatttgtgaaataagactgtc c.*480
. . . . . . g.27620
ccagtaggcacccactgatgcctcctcttcctcttctaaatctcagggttcgtcattgtg c.*540
. . . . . . g.27680
ccaatgcccgatgttttcacccctccgtcttaaagcattgttgcaatttcatcacctaga c.*600
. . . . . . g.27740
tgacataacagccttacaaaaggacagggaggagtgtctgttcctactctcacatagcgg c.*660
. . . . . . g.27800
aggaaagttagagcctctcagtctctgtttatgaggactcattaatctcaaataattgat c.*720
. . . . . . g.27860
gcatttttcatacattagggtctctgtccatgtgtcttcctgatattgttatagaaatgg c.*780
. . . . . . g.27920
cttcaggctgctggtaacagatgctgcggaaaaagaatgccttaaacaaagccaggcacg c.*840
. . . . . . g.27980
gtgactcacacctgtaatcccagcactttgggaggctaaggtgggaggatcacttgagcc c.*900
. . . . . . g.28040
taggagttagacacctacccagcctgagcaacacagtgagacctcatctctacaaaaaac c.*960
. . . . . . g.28100
aaataattagctagatgtcgtggcgcacagctgtagtctcagctacttaggaggctgagg c.*1020
. . . . . . g.28160
cgggaggattatttgagcctgggaggtcaaaactgcaatgagctaagattgcactactgc c.*1080
. . . . . . g.28220
actccgggctgggagacagagtaagaccctgccttaaaaaaaaaaaaaaaaaaatgcctt c.*1140
. . . . . . g.28280
aaagaaaataataagagaagggtgtgttctcttccaagtaatgagccgatcaaggggaag c.*1200
. . . . . . g.28340
caacccaaggctagcaggctcttttcaattcccagctctgccactcttagcatggcagag c.*1260
. . . . . . g.28400
agttggcctcattatgccagtatggctgccacagtgtcagacatcacattccaggcagtg c.*1320
. . . . . . g.28460
gaaaggagaaagaaccaaagggcatccctttctcttgaagcagtccctgtgaggggggat c.*1380
. . . . . . g.28520
tatctggaagccccaacccaatttctgcttccaaccattatccatagaaacaactggaag c.*1440
. . . . . . g.28580
ttgagaagtgcagtcttttaggtgggcacctggctgccctgtatgaaaccagaattaggt c.*1500
. . . . . . g.28640
tggtcagcaggaaaacaagaaaacacttactgtgttgactgaggtttttgacgcatcgct c.*1560
. . . . . . g.28700
ttattgtcaaattaaacaactctatctcattctgcactgaaacacgtactaccattgcct c.*1620
. . . . . . g.28760
ataattggaaaatgatcctcagaggcacagaagatgccctgatggaaagtttgccccttg c.*1680
. . . . . . g.28820
ggcaaagagacagccatgggaaccttcagacatagagagagaaggtggcttttctcccta c.*1740
. . . . . . g.28880
cattcctcaaatagctaagatttggccagtgtgttttctaagtcaattctagtgtgtttc c.*1800
. . . . . . g.28940
atcctcacctcttccctctgtggctttgatgatggaagtgtagtcctaacctactgcaca c.*1860
. . . . . . g.29000
gctgggaccccctgcccctagatcccaatactggggatgggaggaccttgcactattccc c.*1920
. . . . . . g.29060
ctcagtccatctatcgaggtctttgcaggaagcatactgggaattgaaacgagagcctaa c.*1980
. . . . . . g.29120
atgacatctaagaaaggcagtgttcaataccaggtattaggtgaggatgggattctaagg c.*2040
. . . . . . g.29180
acatcagtgggaggcagggagccaccttcagacctcagcatggaagcttccaagatccag c.*2100
. . . . . . g.29240
aggaagaggcaacagcactgagagtcataggtagaagaatcatcacagccctgctaacca c.*2160
. . . . . . g.29300
ggcagctgatgcccctctcccctggctccctgtgtccaaatcctacaggggcatctgttg c.*2220
. . . . . . g.29360
gctgaactcaacctgaagccaaagagaagatgagtggagagaggcaacatttatagagct c.*2280
. . . . . . g.29420
caggtttctagggctggagagggatctggagggacacacaggagacacctggcataacca c.*2340
. . . . . . g.29480
aaaaatgattaaaaaaaaaaaaaaaaagaaacatctatggagcatgggacacggggagtg c.*2400
. . . . . . g.29540
gaggcagctaaaagccatctcatctttcaccgtattcaacaagcccattataacaagtct c.*2460
. . . . . . g.29600
ttcacgctcaaccattcaaacaatcccaacaatcccagcctaagaatttcctggcatttg c.*2520
. . . . . . g.29660
atgaaaatggctgtgggttttgctatctttaagctccctgggaagcaggatataagccca c.*2580
. . . . . . g.29720
gggctggcaggctctttctagctacctgctcttgcacatagagtttgcctcatggttgca c.*2640
. . . . . . g.29780
agaaggctgccatagctccagatggcacatagacattccaggcagcaggaaaaaggaagg c.*2700
. . . . . . g.29840
agcacttaaccgaaggaggtcagggagttggttagtctccacctgaagaagagagccatg c.*2760
. . . . . . g.29900
aaccagcttcagttgactaacgggctcctgtgagtgcatctttggacttttctggaggtt c.*2820
. . . . . . g.29960
gaaatctagatgtggtatgtgtcttaaagcagccaccaactcctcccattaccttccaag c.*2880
. . . . . . g.30020
tgagcccaactacacgatggagcctcttccctgcccttggatctgggctgagcctctgac c.*2940
. . . . . . g.30080
ttgcgttgaccaacagaatgcagtgaaagtgatgccgatactaccctccctgccctagac c.*3000
. . . . . . g.30140
ttgggatacctggcagctatattcttccattcctcaggacttgcaaaaacgggtctcagc c.*3060
. . . . . . g.30200
atgccttcccagagccatgaggtgtttctttgcccattcattgatctgagaagtgagtgt c.*3120
. . . . . . g.30260
aaggagtttaaatcaacctctgttctgtgctagttaaggtaataaagttgctgcagtcca c.*3180
. . . . . . g.30320
gggggtaggtacctgtggacggctctgcgaataggacagttgcatttcttgggaatcaag c.*3240
. . . . . . g.30380
tgcatccctaggctggcagtgcagcagaaatactgaataaaatgtgacaaatctccctgg c.*3300
g.30381
a c.*3301
(downstream sequence)
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