(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000203.3 in the IDUA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008103.1, covering IDUA transcript NM_000203.3.
(upstream sequence)
. . g.5028
gtcacatggggtgcgcgcccagactccg c.-61
. . . . . . g.5088
acccggaggcggaaccggcagtgcagcccgaagccccgcagtccccgagcacgcgtggcc c.-1
. . . . . . g.5148
ATGCGTCCCCTGCGCCCCCGCGCCGCGCTGCTGGCGCTCCTGGCCTCGCTCCTGGCCGCG c.60
M R P L R P R A A L L A L L A S L L A A p.20
. . . . . . g.5208
CCCCCGGTGGCCCCGGCCGAGGCCCCGCACCTGGTGCATGTGGACGCGGCCCGCGCGCTG c.120
P P V A P A E A P H L V H V D A A R A L p.40
. . . | 02 . . g.5834
TGGCCCCTGCGGCGCTTCTGGAGGAGCACAGGCTTCTG | CCCCCCGCTGCCACACAGCCAG c.180
W P L R R F W R S T G F C | P P L P H S Q p.60
. . . . . . g.5894
GCTGACCAGTACGTCCTCAGCTGGGACCAGCAGCTCAACCTCGCCTATGTGGGCGCCGTC c.240
A D Q Y V L S W D Q Q L N L A Y V G A V p.80
. . . . . | 03 g.18616
CCTCACCGCGGCATCAAGCAGGTCCGGACCCACTGGCTGCTGGAGCTTGTCACCACCAG | G c.300
P H R G I K Q V R T H W L L E L V T T R | p.100
. . . . . . g.18676
GGGTCCACTGGACGGGGCCTGAGCTACAACTTCACCCACCTGGACGGGTACCTGGACCTT c.360
G S T G R G L S Y N F T H L D G Y L D L p.120
. . | 04 . . . . g.18920
CTCAGGGAGAACCAGCTCCTCCCAG | GGTTTGAGCTGATGGGCAGCGCCTCGGGCCACTTC c.420
L R E N Q L L P G | F E L M G S A S G H F p.140
. . . . . . g.18980
ACTGACTTTGAGGACAAGCAGCAGGTGTTTGAGTGGAAGGACTTGGTCTCCAGCCTGGCC c.480
T D F E D K Q Q V F E W K D L V S S L A p.160
. | 05 . . . . . g.19518
AGGAGATACATCG | GTAGGTACGGACTGGCGCATGTTTCCAAGTGGAACTTCGAGACGTGG c.540
R R Y I G | R Y G L A H V S K W N F E T W p.180
. . . . | 06 . g.19693
AATGAGCCAGACCACCACGACTTTGACAACGTCTCCATGACCATGCAAG | GCTTCCTGAAC c.600
N E P D H H D F D N V S M T M Q G | F L N p.200
. . . . . . g.19753
TACTACGATGCCTGCTCGGAGGGTCTGCGCGCCGCCAGCCCCGCCCTGCGGCTGGGAGGC c.660
Y Y D A C S E G L R A A S P A L R L G G p.220
. . . . . . g.19813
CCCGGCGACTCCTTCCACACCCCACCGCGATCCCCGCTGAGCTGGGGCCTCCTGCGCCAC c.720
P G D S F H T P P R S P L S W G L L R H p.240
. . . . . . g.19873
TGCCACGACGGTACCAACTTCTTCACTGGGGAGGCGGGCGTGCGGCTGGACTACATCTCC c.780
C H D G T N F F T G E A G V R L D Y I S p.260
. | 07 . . . . . g.20033
CTCCACAGGAAG | GGTGCGCGCAGCTCCATCTCCATCCTGGAGCAGGAGAAGGTCGTCGCG c.840
L H R K | G A R S S I S I L E Q E K V V A p.280
. . . . . . g.20093
CAGCAGATCCGGCAGCTCTTCCCCAAGTTCGCGGACACCCCCATTTACAACGACGAGGCG c.900
Q Q I R Q L F P K F A D T P I Y N D E A p.300
. . . . . . g.20153
GACCCGCTGGTGGGCTGGTCCCTGCCACAGCCGTGGAGGGCGGACGTGACCTACGCGGCC c.960
D P L V G W S L P Q P W R A D V T Y A A p.320
. | 08 . . . . . g.20320
ATGGTGGTGAAG | GTCATCGCGCAGCATCAGAACCTGCTACTGGCCAACACCACCTCCGCC c.1020
M V V K | V I A Q H Q N L L L A N T T S A p.340
. . . . . . g.20380
TTCCCCTACGCGCTCCTGAGCAACGACAATGCCTTCCTGAGCTACCACCCGCACCCCTTC c.1080
F P Y A L L S N D N A F L S Y H P H P F p.360
. . . . . . g.20440
GCGCAGCGCACGCTCACCGCGCGCTTCCAGGTCAACAACACCCGCCCGCCGCACGTGCAG c.1140
A Q R T L T A R F Q V N N T R P P H V Q p.380
. . . . | 09 . g.20746
CTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTGG | ATGAGGAGCAG c.1200
L L R K P V L T A M G L L A L L D | E E Q p.400
. . . . . . g.20806
CTCTGGGCCGAAGTGTCGCAGGCCGGGACCGTCCTGGACAGCAACCACACGGTGGGCGTC c.1260
L W A E V S Q A G T V L D S N H T V G V p.420
. . . . . . g.20866
CTGGCCAGCGCCCACCGCCCCCAGGGCCCGGCCGACGCCTGGCGCGCCGCGGTGCTGATC c.1320
L A S A H R P Q G P A D A W R A A V L I p.440
. . . . . . g.20926
TACGCGAGCGACGACACCCGCGCCCACCCCAACCGCAGCGTCGCGGTGACCCTGCGGCTG c.1380
Y A S D D T R A H P N R S V A V T L R L p.460
. . | 10 . . . . g.21077
CGCGGGGTGCCCCCCGGCCCGG | GCCTGGTCTACGTCACGCGCTACCTGGACAACGGGCTC c.1440
R G V P P G P G | L V Y V T R Y L D N G L p.480
. . . . . . g.21137
TGCAGCCCCGACGGCGAGTGGCGGCGCCTGGGCCGGCCCGTCTTCCCCACGGCAGAGCAG c.1500
C S P D G E W R R L G R P V F P T A E Q p.500
. . | 11 . . . . g.21384
TTCCGGCGCATGCGCGCGGCTGAG | GACCCGGTGGCCGCGGCGCCCCGCCCCTTACCCGCC c.1560
F R R M R A A E | D P V A A A P R P L P A p.520
. . . . . . g.21444
GGCGGCCGCCTGACCCTGCGCCCCGCGCTGCGGCTGCCGTCGCTTTTGCTGGTGCACGTG c.1620
G G R L T L R P A L R L P S L L L V H V p.540
. . . | 12 . . . g.21582
TGTGCGCGCCCCGAGAAGCCGCCCGGGCAG | GTCACGCGGCTCCGCGCCCTGCCCCTGACC c.1680
C A R P E K P P G Q | V T R L R A L P L T p.560
. . . . | 13. . g.22028
CAAGGGCAGCTGGTTCTGGTCTGGTCGGATGAACACGTGGGCTCCAA | GTGCCTGTGGACA c.1740
Q G Q L V L V W S D E H V G S K | C L W T p.580
. . . . . . g.22088
TACGAGATCCAGTTCTCTCAGGACGGTAAGGCGTACACCCCGGTCAGCAGGAAGCCATCG c.1800
Y E I Q F S Q D G K A Y T P V S R K P S p.600
. . | 14 . . . g.22295
ACCTTCAACCTCTTTGTGTTCAGCCCAG | ACACAGGTGCTGTCTCTGGCTCCTACCGAGTT c.1860
T F N L F V F S P D | T G A V S G S Y R V p.620
. . . . . . g.22355
CGAGCCCTGGACTACTGGGCCCGACCAGGCCCCTTCTCGGACCCTGTGCCGTACCTGGAG c.1920
R A L D Y W A R P G P F S D P V P Y L E p.640
. . . . g.22397
GTCCCTGTGCCAAGAGGGCCCCCATCCCCGGGCAATCCATGA c.1962
V P V P R G P P S P G N P X p.653
. . . . . . g.22457
gcctgtgctgagccccagtgggttgcacctccaccggcagtcagcgagctggggctgcac c.*60
. . . . . . g.22517
tgtgcccatgctgccctcccatcaccccctttgcaatatatttttatattttattatttt c.*120
. g.22533
cttttatatcttggta c.*136
(downstream sequence)
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