(used for variant description)
(last modified December 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000263.3 in the NAGLU gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011552.1, covering NAGLU transcript NM_000263.3.
(upstream sequence)
. . . . g.5040
agtagggaagtagctatggcagtgcctgatacaaaataaa c.-301
. . . . . . g.5100
ctccaaatgtgtatttattagatggttggatggaagttatttgcgtgtgaaagcgcgttt c.-241
. . . . . . g.5160
tacccgaaggcgctctgtgagggccagcgggtccccttcggccctggagccggggtcaca c.-181
. . . . . . g.5220
cgctccccaccgcgtgcggtcacgagacgcccccaagggagtatcctggtacccggaagc c.-121
. . . . . . g.5280
cgcgactcctggccctgagcccgggcttagccttcgggtccacgtggccggaggccggca c.-61
. . . . . . g.5340
gctgattggacgcgggccgccccaccccctggccgtcgcgggacccgcaggactgagacc c.-1
. . . . . . g.5400
ATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGC c.60
M E A V A V A A A V G V L L L A G A G G p.20
. . . . . . g.5460
GCGGCAGGCGACGAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTG c.120
A A G D E A R E A A A V R A L V A R L L p.40
. . . . . . g.5520
GGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGGCTGCCAAGCCG c.180
G P G P A A D F S V S V E R A L A A K P p.60
. . . . . . g.5580
GGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCC c.240
G L D T Y S L G G G G A A R V R V R G S p.80
. . . . . . g.5640
ACGGGCGTGGCGGCCGCCGCGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCAC c.300
T G V A A A A G L H R Y L R D F C G C H p.100
. . . . . . g.5700
GTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCGTGCCGGGGGAG c.360
V A W S G S Q L R L P R P L P A V P G E p.120
. . | 02 . . . . g.6502
CTGACCGAGGCCACGCCCAACAG | GTACCGCTATTACCAGAATGTGTGCACGCAAAGCTAC c.420
L T E A T P N R | Y R Y Y Q N V C T Q S Y p.140
. . . . . . g.6562
TCTTTCGTGTGGTGGGACTGGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAAT c.480
S F V W W D W A R W E R E I D W M A L N p.160
. . . . . | 03 . g.7415
GGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGCGG | GTGTACCTG c.540
G I N L A L A W S G Q E A I W Q R | V Y L p.180
. . . . . . g.7475
GCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCC c.600
A L G L T Q A E I N E F F T G P A F L A p.200
. . . . . . g.7535
TGGGGGCGAATGGGCAACCTGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATC c.660
W G R M G N L H T W D G P L P P S W H I p.220
. | 04 . . . . g.7779
AAGCAGCTTTACCTGCAG | CACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCCA c.720
K Q L Y L Q | H R V L D Q M R S F G M T P p.240
. . . . | 05 . . g.10033
GTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAG | GGTGTTCCCTCAGGTC c.780
V L P A F A G H V P E A V T R | V F P Q V p.260
. . . . . . g.10093
AATGTCACGAAGATGGGCAGTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTT c.840
N V T K M G S W G H F N C S Y S C S F L p.280
. . . . . . g.10153
CTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGCGAGAGCTGATC c.900
L A P E D P I F P I I G S L F L R E L I p.300
. . . . . . g.10213
AAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCT c.960
K E F G T D H I Y G A D T F N E M Q P P p.320
. . . . . . g.10273
TCCTCAGAGCCCTCCTACCTTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCA c.1020
S S E P S Y L A A A T T A V Y E A M T A p.340
| 06 . . . . . . g.12154
G | TGGATACTGAGGCTGTGTGGCTGCTCCAAGGCTGGCTCTTCCAGCACCAGCCGCAGTTC c.1080
V | D T E A V W L L Q G W L F Q H Q P Q F p.360
. . . . . . g.12214
TGGGGGCCCGCCCAGATCAGGGCTGTGCTGGGAGCTGTGCCCCGTGGCCGCCTCCTGGTT c.1140
W G P A Q I R A V L G A V P R G R L L V p.380
. . . . . . g.12274
CTGGACCTGTTTGCTGAGAGCCAGCCTGTGTATACCCGCACTGCCTCCTTCCAGGGCCAG c.1200
L D L F A E S Q P V Y T R T A S F Q G Q p.400
. . . . . . g.12334
CCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGAAACCATGGTCTTTTTGGAGCCCTA c.1260
P F I W C M L H N F G G N H G L F G A L p.420
. . . . . . g.12394
GAGGCTGTGAACGGAGGCCCAGAAGCTGCCCGCCTCTTCCCCAACTCCACCATGGTAGGC c.1320
E A V N G G P E A A R L F P N S T M V G p.440
. . . . . . g.12454
ACGGGCATGGCCCCCGAGGGCATCAGCCAGAACGAAGTGGTCTATTCCCTCATGGCTGAG c.1380
T G M A P E G I S Q N E V V Y S L M A E p.460
. . . . . . g.12514
CTGGGCTGGCGAAAGGACCCAGTGCCAGATTTGGCAGCCTGGGTGACCAGCTTTGCCGCC c.1440
L G W R K D P V P D L A A W V T S F A A p.480
. . . . . . g.12574
CGGCGGTATGGGGTCTCCCACCCGGACGCAGGGGCAGCGTGGAGGCTACTGCTCCGGAGT c.1500
R R Y G V S H P D A G A A W R L L L R S p.500
. . . . . . g.12634
GTGTACAACTGCTCCGGGGAGGCCTGCAGGGGCCACAATCGTAGCCCGCTGGTCAGGCGG c.1560
V Y N C S G E A C R G H N R S P L V R R p.520
. . . . . . g.12694
CCGTCCCTACAGATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGG c.1620
P S L Q M N T S I W Y N R S D V F E A W p.540
. . . . . . g.12754
CGGCTGCTGCTCACATCTGCTCCCTCCCTGGCCACCAGCCCCGCCTTCCGCTACGACCTG c.1680
R L L L T S A P S L A T S P A F R Y D L p.560
. . . . . . g.12814
CTGGACCTCACTCGGCAGGCAGTGCAGGAGCTGGTCAGCTTGTACTATGAGGAGGCAAGA c.1740
L D L T R Q A V Q E L V S L Y Y E E A R p.580
. . . . . . g.12874
AGCGCCTACCTGAGCAAGGAGCTGGCCTCCCTGTTGAGGGCTGGAGGCGTCCTGGCCTAT c.1800
S A Y L S K E L A S L L R A G G V L A Y p.600
. . . . . . g.12934
GAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGTGACAGCCGCTTCTTGCTGGGCAGC c.1860
E L L P A L D E V L A S D S R F L L G S p.620
. . . . . . g.12994
TGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGAGGCCGATTTCTACGAGCAG c.1920
W L E Q A R A A A V S E A E A D F Y E Q p.640
. . . . . . g.13054
AACAGCCGCTACCAGCTGACCTTGTGGGGGCCAGAAGGCAACATCCTGGACTATGCCAAC c.1980
N S R Y Q L T L W G P E G N I L D Y A N p.660
. . . . . . g.13114
AAGCAGCTGGCGGGGTTGGTGGCCAACTACTACACCCCTCGCTGGCGGCTTTTCCTGGAG c.2040
K Q L A G L V A N Y Y T P R W R L F L E p.680
. . . . . . g.13174
GCGCTGGTTGACAGTGTGGCCCAGGGCATCCCTTTCCAACAGCACCAGTTTGACAAAAAT c.2100
A L V D S V A Q G I P F Q Q H Q F D K N p.700
. . . . . . g.13234
GTCTTCCAACTGGAGCAGGCCTTCGTTCTCAGCAAGCAGAGGTACCCCAGCCAGCCGCGA c.2160
V F Q L E Q A F V L S K Q R Y P S Q P R p.720
. . . . . . g.13294
GGAGACACTGTGGACCTGGCCAAGAAGATCTTCCTCAAATATTACCCCCGCTGGGTGGCC c.2220
G D T V D L A K K I F L K Y Y P R W V A p.740
. g.13306
GGCTCTTGGTGA c.2232
G S W X p.743
. . . . . . g.13366
tagattcgccaccactgggccttgttttccgctaattccagggcagattccagggcccag c.*60
. . . . . . g.13426
agctggacagacatcacaggataacccaggcctgggaggaggccccacggcctgctggtg c.*120
. . . . . . g.13486
gggtctgacctggggggattggagggaaatgacctgccctccaccaccacccaaagtgtg c.*180
. . . g.13517
ggattaaagtactgttttctttccacttaaa c.*211
(downstream sequence)
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