(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000199.3 in the SGSH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008229.1, covering SGSH transcript NM_000199.3.
(upstream sequence)
. . g.5027
gaccggggtcggggcagggggcggggc c.-61
. . . . . . g.5087
cgagcgggagaccagagagccggagccggatcccgatcccgagtccgagccgccgccgcc c.-1
. . . . . . g.5147
ATGAGCTGCCCCGTGCCCGCCTGCTGCGCGCTGCTGCTAGTCCTGGGGCTCTGCCGGGCG c.60
M S C P V P A C C A L L L V L G L C R A p.20
. . | 02 . . . g.8240
CGTCCCCGGAACGCACTGCTGCTCCTCG | CGGATGACGGAGGCTTTGAGAGTGGCGCGTAC c.120
R P R N A L L L L A | D D G G F E S G A Y p.40
. . . . . . g.8300
AACAACAGCGCCATCGCCACCCCGCACCTGGACGCCTTGGCCCGCCGCAGCCTCCTCTTT c.180
N N S A I A T P H L D A L A R R S L L F p.60
. . . . . . g.8360
CGCAATGCCTTCACCTCGGTCAGCAGCTGCTCTCCCAGCCGCGCCAGCCTCCTCACTGGC c.240
R N A F T S V S S C S P S R A S L L T G p.80
| 03 . . . . . g.10313
CTGCCCCAG | CATCAGAATGGGATGTACGGGCTGCACCAGGACGTGCACCACTTCAACTCC c.300
L P Q | H Q N G M Y G L H Q D V H H F N S p.100
. . . . . | 04 . g.10640
TTCGACAAGGTGCGGAGCCTGCCGCTGCTGCTCAGCCAAGCTGGTGTGCGCACAG | GCATC c.360
F D K V R S L P L L L S Q A G V R T G | I p.120
. . . . . . g.10700
ATCGGGAAGAAGCACGTGGGGCCGGAGACCGTGTACCCGTTTGACTTTGCGTACACGGAG c.420
I G K K H V G P E T V Y P F D F A Y T E p.140
. . . . . . g.10760
GAGAATGGCTCCGTCCTCCAGGTGGGGCGGAACATCACTAGAATTAAGCTGCTCGTCCGG c.480
E N G S V L Q V G R N I T R I K L L V R p.160
. . | 05 . . . . g.11106
AAATTCCTGCAGACTCAGGATGACCG | GCCTTTCTTCCTCTACGTCGCCTTCCACGACCCC c.540
K F L Q T Q D D R | P F F L Y V A F H D P p.180
. . . . . . g.11166
CACCGCTGTGGGCACTCCCAGCCCCAGTACGGAACCTTCTGTGAGAAGTTTGGCAACGGA c.600
H R C G H S Q P Q Y G T F C E K F G N G p.200
. . . . . . g.11226
GAGAGCGGCATGGGTCGTATCCCAGACTGGACCCCCCAGGCCTACGACCCACTGGACGTG c.660
E S G M G R I P D W T P Q A Y D P L D V p.220
| 06 . . . . . . g.11572
CTG | GTGCCTTACTTCGTCCCCAACACCCCGGCAGCCCGAGCCGACCTGGCCGCTCAGTAC c.720
L | V P Y F V P N T P A A R A D L A A Q Y p.240
. . | 07 . . . . g.13161
ACCACCGTCGGCCGCATGGACCAAG | GAGTTGGACTGGTGCTCCAGGAGCTGCGTGACGCC c.780
T T V G R M D Q G | V G L V L Q E L R D A p.260
. . . . . . g.13221
GGTGTCCTGAACGACACACTGGTGATCTTCACGTCCGACAACGGGATCCCCTTCCCCAGC c.840
G V L N D T L V I F T S D N G I P F P S p.280
. . . . . . g.13281
GGCAGGACCAACCTGTACTGGCCGGGCACTGCTGAACCCTTACTGGTGTCATCCCCGGAG c.900
G R T N L Y W P G T A E P L L V S S P E p.300
. . . . | 08 . g.14400
CACCCAAAACGCTGGGGCCAAGTCAGCGAGGCCTACGTGAGCCTCCTAG | ACCTCACGCCC c.960
H P K R W G Q V S E A Y V S L L D | L T P p.320
. . . . . . g.14460
ACCATCTTGGATTGGTTCTCGATCCCGTACCCCAGCTACGCCATCTTTGGCTCGAAGACC c.1020
T I L D W F S I P Y P S Y A I F G S K T p.340
. . . . . . g.14520
ATCCACCTCACTGGCCGGTCCCTCCTGCCGGCGCTGGAGGCCGAGCCCCTCTGGGCCACC c.1080
I H L T G R S L L P A L E A E P L W A T p.360
. . . . . . g.14580
GTCTTTGGCAGCCAGAGCCACCACGAGGTCACCATGTCCTACCCCATGCGCTCCGTGCAG c.1140
V F G S Q S H H E V T M S Y P M R S V Q p.380
. . . . . . g.14640
CACCGGCACTTCCGCCTCGTGCACAACCTCAACTTCAAGATGCCCTTTCCCATCGACCAG c.1200
H R H F R L V H N L N F K M P F P I D Q p.400
. . . . . . g.14700
GACTTCTACGTCTCACCCACCTTCCAGGACCTCCTGAACCGCACCACAGCTGGTCAGCCC c.1260
D F Y V S P T F Q D L L N R T T A G Q P p.420
. . . . . . g.14760
ACGGGCTGGTACAAGGACCTCCGTCATTACTACTACCGGGCGCGCTGGGAGCTCTACGAC c.1320
T G W Y K D L R H Y Y Y R A R W E L Y D p.440
. . . . . . g.14820
CGGAGCCGGGACCCCCACGAGACCCAGAACCTGGCCACCGACCCGCGCTTTGCTCAGCTT c.1380
R S R D P H E T Q N L A T D P R F A Q L p.460
. . . . . . g.14880
CTGGAGATGCTTCGGGACCAGCTGGCCAAGTGGCAGTGGGAGACCCACGACCCCTGGGTG c.1440
L E M L R D Q L A K W Q W E T H D P W V p.480
. . . . . . g.14940
TGCGCCCCCGACGGCGTCCTGGAGGAGAAGCTCTCTCCCCAGTGCCAGCCCCTCCACAAT c.1500
C A P D G V L E E K L S P Q C Q P L H N p.500
g.14949
GAGCTGTGA c.1509
E L X p.502
. . . . . . g.15009
ccatcccaggaggcctgtgcacacatcccaggcatgtcccagacacatcccacacgtgtc c.*60
. . . . . . g.15069
cgtgtggccggccagcctggggagtagtggcaacagcccttccgtccacactcccatcca c.*120
. . . . . . g.15129
aggagggttcttccttcctgtggggtcactcttgccattgcctggagggggaccagagca c.*180
. . . . . . g.15189
tgtgaccagagcatgtgcccagcccctccaccaccaggggcactgccgtcatggcagggg c.*240
. . . . . . g.15249
acacagttgtccttgtgtctgaaccatgtcccagcacgggaattctagacatacgtggtc c.*300
. . . . . . g.15309
tgcggacagggcagcgcccccagcccatgacaagggagtcttgttttctggcttggtttg c.*360
. . . . . . g.15369
gggacctgcaaatgggaggcctgaggccctcttcaggctttggcagccacagatacttct c.*420
. . . . . . g.15429
gaacccttcacagagagcaggcaggggcttcggtgccgcgtgggcagtacgcaggtccca c.*480
. . . . . . g.15489
ccgacactcacctgggagcacggcgcctggctcttaccagcgtctggcctagaggaagcc c.*540
. . . . . . g.15549
tttgagcgacctttgggcaggtttctgcttcttctgttttgccccatggtcaagtccctg c.*600
. . . . . . g.15609
ttccccaggcaggtttcagctgattggcagcaggctccctgagtgatgagcttgaacctg c.*660
. . . . . . g.15669
tggtgtttctgggcagaagcttatcttttttgagagtgtccgaagatgaaggcatggcga c.*720
. . . . . . g.15729
tgcccgtcctctggcttgggttaattcttcggtgacactggcattgctgggtggtgatgc c.*780
. . . . . . g.15789
ccgtcctctggcttgggttaattcttcggtgacactggcgttgctgggtggcaatgccca c.*840
. . . . . . g.15849
tcctctgccttgggttaattcttcggtgacactggcgttgctgggtggcgatgcccgtcc c.*900
. . . . . . g.15909
tctggcttgggttaattcttggatgacgtcggcgttgctgggagaatgtgccgttcctgc c.*960
. . . . . . g.15969
cctgcctccacccacctcgggagcagaagcccggcctggacacccctcggcctggacacc c.*1020
. . . . . . g.16029
cctcgaaggagagggcgcttccttgagtaggtgggctccccttgcccttccctccctatc c.*1080
. . . . . . g.16089
actccatactggggtgggctggaggaggccacaggccagctattgtaaaagctttttatt c.*1140
. . . g.16121
ttagtaaaatatacagaagttctttttctgaa c.*1172
(downstream sequence)
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