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Table 2 Nucleotide variants found in the IDS gene

From: Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

Nucleotide change number Nucleotide; protein change found Type of nucleotide change Exons of IDS gene HGMD accession Allele frequency (%) in presented cohort Comments
1 c.103G>C; p.Asp35His Missense 1 None 0.88 Novel (NC_000023.11:g.149505035C>G)
ClinVar accession SCV001450592
2 c.136G>T; p.Asp46Tyr Missense 2 None 0.44 Novel (NC_000023.11:g.149504261C>A)
ClinVar accession SCV001450595
one another described in the same codon
3 c.136G>A; p.Asp46Asn Missense 2 None 0.44 Novel (NC_000023.11:g.149504261C>T)
ClinVar accession SCV001450596
one another described in the same codon
4 c.160T>G; p.Tyr54Asp Missense 2 CM981010 0.44  
5 c.187A>G; p.Asn63Asp Missense 2 CM960853 1.3  
6 c.236C>A; p.Ala79Glu Missense 2 CM981012 0.88  
7 c.253G>A; p.Ala85Thr Missense 3 CM960855 2.2  
8 c.253G>T; p.Ala85Ser Missense 3 CM981013 0.44  
9 c.257C>T; p.Pro86Leu Missense 3 CM950659 1.3  
10 c.257C>G; p.Pro86Arg Missense 3 CM930414 0.44  
11 c.263G>A; p.Arg88His Missense 3 CM960857 2.65  
12 c.262C>T; p.Arg88Cys Missense 3 CM950661 1.76  
13 c.263G>T; p.Arg88Leu Missense 3 CM981014 0.44  
14 c.263G>C; p.Arg88Pro Missense 3 CM970749 0.44  
15 c.283A>T; p.Arg95Trp Missense 3 None 0.44 Novel (NC_000023.11:g.149503447T>A)
ClinVar accession SCV001450598
three other described in the same codon
16 c.305T>G; p.Leu102Arg Missense 3 CM981017 0.88  
17 c.307T>G; p.Tyr103Asp Missense 3 None 0.44 Novel (NC_000023.11:g.149503423A>C)
ClinVar accession SCV001450601
two other described in the same codon
18 c.325T>C; p.Trp109Arg Missense 3 CM128183 0.88  
19 c.359C>G; p.Pro120Arg Missense 3 CM930417 0.44  
20 c.395C>G; p.Ser132Trp Missense 3 CM950663 0.88  
21 c.403A>G; p.Lys135Glu Missense 3 None 0.44 Novel (NC_000023.11:g.149503327T>C)
ClinVar accession SCV001450599
two other described in the same codon
22 c.476A>C; p.His159Pro Missense 4 CM981026 0.44  
23 c.512G>A; p.Cys171Tyr Missense 5 None 0.44 Novel (NC_000023.11:g.149498303C>T)
ClinVar accession SCV001450602
one another described in the same codon
24 c.545T>C; p.Leu182Pro Missense 5 CM981027 0.44  
25 c.551G>T; p.Cys184Phe Missense 5 CM960862 0.44  
26 c.587T>C; p.Leu196Ser Missense 5 CM981029 0.88  
27 c.590C>T; p.Pro197Leu Missense 5 None 1.76 Novel (NC_000023.11:g.149498225G>A)
ClinVar accession SCV001450603
28 c.593A>G; p.Asp198Gly Missense 5 CM981030 0.44  
29 c.671G>A; p.Gly224Glu Missense 5 CM981031 0.44  
30 c.697A>G; p.Arg233Gly Missense 5 CM146285 1.3  
31 c.776T>C; p.Leu259Pro Missense 6 CM030889 0.44  
32 c.795C>A; p.Asn265Lys Missense 6 CM128190 0.88  
33 c.795C>G; p.Asn265Lys Missense 6 CM141180 0.44  
34 c.998C>T; p.Ser333Leu Missense 7 CM920367 3.09  
35 c.1004A>G; p.His335Arg Missense 7 CM981045 0.44  
36 c.1006G>C; p.Gly336Arg Missense 8 CM970753 0.44  
37 c.1019G>A; p.Gly340Asp Missense 8 CM981048 1.3  
38 c.1028G>A; p.Gly343Glu Missense 8 None 0.44 Novel (NC_000023.11:g.149487077C>T)
ClinVar accession SCV001450616
39 c.1035G>C, p.Trp345Cys Missense 8 CM950668 0.44  
40 c.1034G>C; p.Trp345Ser Missense 8 None 0.44 Novel (NC_000023.11:g.149487071C>G)
ClinVar accession SCV001450617
four other described in the same codon
41 p.1037C>T; p.Ala346Val Missense 8 CM950669 1.3  
42 c.1204G>A; p.Glu402Lys Missense 9 CM167391 0.88  
43 c.1295G>A; p.Cys432Tyr Missense 9 CM981052 0.88  
44 c.1402C>T; p.Arg468Trp Missense 9 CM920369 2.2  
45 c.1403G>A; p.Arg468Gln Missense 9 CM930422 4.4  
46 c.1411G>C; p.Asp471His
c.1418C>T; p.Pro473Leu
Missense 9 None 0.44 Novel
Novel
(NC_000023.11:g.[149482988C>G;149482981G>A]) ClinVar accession SCV001450627
47 c.1432G>T; p.Asp478Tyr Missense 9 CM981054 0.44  
48 c.1432G>A; p.Asp478Asn Missense 9 BM1234454 0.44  
49 c.1454T>G; p.Ileu485Arg Missense 9 CM940967 0.88  
50 c.1565T>C; p.Leu522Pro Missense 9 HM971766 0.44  
51 c.196C>T; p.Gln66Term Nonsense 2 CM068304 0.44  
52 c.361C>T; p.Gln121Term Nonsense 3 CM128174 0.44  
53 c.514C>T; p.Arg172Term Nonsense 5 CM920366 2.65  
54 c.598C>T p.Gln200Term Nonsense 6 CM146284 0.88  
55 c.800G>A; p.Trp267Term Nonsense 6 CM050243 0.44  
56 c.814C>T; p.Gln272Term Nonsense 6 None 0.44 Novel (NC_000023.11:g.149496411G>A)
ClinVar accession SCV001450612
57 c.829C>T; p.Gln277Term Nonsense 6 None 0.44 Novel (NC_000023.11:g.149496396G>A)
ClinVar accession SCV001450613
58 c.998C>A; p.Ser333Term Nonsense 7 None 0.88 Novel (NC_000023.11:g.149490322G>T)
ClinVar accession SCV001450615
two other described in the same codon
59 c.1010G>A; p.Trp337Term Nonsense 8 CM128194 0.88  
60 c.1234G>T; p.Gly412Term Nonsense 9 None 0.44 Novel (NC_000023.11:g.149483165C>A)
ClinVar accession SCV001450623
61 c.1288G>T; p.Glu430Term Nonsense 9 CM146287 0.44  
62 c.1327C>T; p.Arg443Term Nonsense 9 CM920368 1.3  
63 c.1340T>A; p.Leu447Term Nonsense 9 None 0.44 Novel (NC_000023.11:g.149483059A>T)
ClinVar accession SCV001450625
64 c.1375G>T; p.Glu459Term Nonsense 9 CM1719915 0.44  
65 c.1445T>G; p.Leu482Term Nonsense 9 CM981058 0.44  
66 c.1608T>A; p.Tyr536Term Nonsense 9 CM141189 0.44  
67 IVS1 as A-G -2; c.104-2A>G Splicing substitutions   CS982224 0.44  
68 IVS2 ds G-C +1; c.240+1G>C Splicing substitutions   CS050391 0.44  
69 IVS2 ds G-T +1; c.240+1G>T Splicing substitutions   CS982227 0.44  
70 IVS2 as C-G -9; c.241-9C>G Splicing substitutions   None 0.88 Novel (NC_000023.11:g.149503498G>C)
ClinVar accession SCV001450634
71 IVS4 ds G-A +1; c.507+1G>A Splicing substitutions   CS982228 0.88  
72 IVS6 ds G-A +1; c.879+1G>A Splicing substitutions   CS982229 0.44  
73 IVS6 as A-G -2; c.880-2A>G Splicing substitutions   CS930833 0.44  
74 IVS7 ds T-G +2 c.1006+2T>G Splicing substitutions   None 0.44 Novel (NC_000023.11:g.149490312A>C)
ClinVar accession SCV001450635
75 IVS7 as G-A -1; c.1007-1G>A Splicing substitutions   CS120471 0.44  
76 IVS8 as C-A -15; c.1181-15C>A Splicing substitutions   CS013824 0.44  
77 IVS8 ds C-T -59; c.1122C>T Splicing substitutions   CS963080 5.75  
78 c.118_120delCTT; p.Leu40del Small deletion 2 None 0.44 Novel (NC_000023.11:g.149504277_149504279delAAG)
ClinVar accession SCV001450593
79 c.121_123delCTC p.Leu41del Small deletion 2 CD941707 0.44  
80 c.133delG; p.Asp45Metfs Small deletion 2 None 0.44 Novel
(NC_000023.11:g.149504264delC)
ClinVar accession SCV001450594
81 c.248delT; p.Val83Glyfs Small deletion 3 None 0.44 Novel (NC_000023.11:g.149503482delA)
ClinVar accession SCV001450597
82 c.305delT; p.Leu102Argfs Small deletion 3 None 0.44 Novel (NC_000023.11:g.149503425delA)
ClinVar accession SCV001450600
83 c.404_405delAA; p.Lys135Serfs Small deletion 3 None 0.44 Described
ClinVar accession VCV000499561.1
84 c.410_411delTT p.Phe137Serfs Small deletion 3 CD012530 0.44  
85 c.596_599delAACA; p.Lys199Argfs Small deletion 5 CD941708 2.21  
86 c.613delG; p.Ala205Profs Small deletion 5 None 0.44 Novel (NC_000023.11:g.149498202delC)
ClinVar accession SCV001450604
87 c.625_627del TTG; p.Leu209del Small deletion 5 None 0.44 Novel (NC_000023.11:g.149498188_149498190delCAA)
ClinVar accession SCV001450605
88 c.667_683del17; p.Val223Thrfs Small deletion 5 CD982702 0.44  
89 c.687delC; p.His229Glnfs Small deletion 5 None 0.44 Novel (NC_000023.11:g.149498128delG)
ClinVar accession SCV001450606
90 c.715_721del7; p.Gln239Cysfs Small deletion 6 None 0.44 Novel (NC_000023.11:g.149496504_149496510delACTTCTG) ClinVar accession SCV001450607
91 c.782delC; p.Pro261Leufs Small deletion 6 CD982703 0.44  
92 c.800_801delGG; p.Trp267Tyrfs Small deletion 6 None 0.44 Novel (NC_000023.11:g.149496424_149496425delCC)
ClinVar accession SCV001450611
93 c.899_900delAC; p.Tyr300Phefs Small deletion 7 None 0.44 Novel (NC_000023.11:g.149490420_149490421delGT)
ClinVar accession SCV001450614
94 c.908_909delCT; p.Ser303Cysfs Small deletion 7 CD1412401 0.44  
95 c.1077delG; p.Ile360Tyrfs Small deletion 8 CD146296 0.44  
96 c.1129delC; p.Leu377Phefs Small deletion 8 None 0.44 Novel (NC_000023.11:g.149486976delG)
ClinVar accession SCV001450618
97 c.1191delC; p.Met398Trpfs Small deletion 9 None 0.44 Novel (NC_000023.11:g.149483208delG)
ClinVar accession SCV001450620
98 c.1214_1220del7; p.Ser405Phefs Small deletion 9 None 0.44 Novel (NC_000023.11:g.149483179_149483185delAAAAGAG)
ClinVar accession SCV001450621
99 c.1221delT; p.Ser409Argfs Small deletion 9 None 0.44 Novel (NC_000023.11:g.149483178delA)
ClinVar accession SCV001450622
100 c.1353_1357delGTACC; p.Tyr452Profs Small deletion 9 None 0.44 Novel (NC_000023.11:g. 149483042_149483046delGGTAC)
ClinVar accession SCV001450626
101 c.1426_1437 del12 p.476_479delAsnSerAspLys Small deletion 9 None 0.44 Novel (NC_000023.11:g.149482962_149482973delCTTGTCAGAATT)
ClinVar accession SCV001450629
102 c.1431delT; p.Asp478Thrfs Small deletion 9 None 0.44 Novel (NC_000023.11:g.149482968delA)
ClinVar accession SCV001450628
103 c.1438_1442delCCGAG;p.Pro480Phefs Small deletion 9 None 0.44 Novel (NC_000023.11:g.149482957_149482961delCTCGG) ClinVar accession SCV001450630
104 c.1466delG p.Val489Alafs Small deletion 9 CD146297 0.44  
105 c.776_777dupTA; p.Pro260Tyrfs Small insertions/duplications 6 None 0.44 Novel (NC_000023.11:g.149496448_149496449dupTA)
ClinVar accession SCV001450608
106 c.801_802insG; p.Met268Aspfs Small insertions/duplications 6 None 0.44 Novel (NC_000023.11:g.149496423_149496424insC)
ClinVar accession SCV001450610
107 c.1151_1152 insTGCGACCCTTT; p.Phe384Leufs Small insertions/duplications 8 None 0.44 Novel (NC_000023.11:g.149486954_149486955 insTGCGACCCTTT)
ClinVar accession SCV001450619
108 c.1239_c.1240insCT; p.Ala414Leufs Small insertions/duplications 9 None 0.44 Novel (NC_000023.11:g.149483159_149483160insAG)
ClinVar accession SCV001450624
109 c.1491_1492dupTA; p.Arg498Ileufs Small insertions/duplications 9 None 0.44 Novel (NC_000023.11:g.149482909_149482910dupTA)
ClinVar accession SCV001450631
110 c.104-1_104delGAinsT Small indels 2 None 0.44 Novel (NC_000023.11:g.149504293_149504294delTCinsA) ClinVar accession SCV001450632
111 c.240 +2_c.240+3insTCCCAGA Small indels Intron 2 None 0.44 Novel (NC_000023.11:g.149504154_149504155insTCCCAGA) ClinVar accession SCV001450633
112 c.786_787delGGinsC; p.Ala263Profs Small indels 6 None 0.44 Novel (NC_000023.11:g.149496438_149496439delCCinsG) ClinVar accession SCV001450609
113 gDNA level exons 1–3 deletion Gross deletions    0.88  
114 gDNA level exons 1–4 deletion Gross deletions    0.44  
115 gDNA level exons 1–7 deletion Gross deletions    0.44  
116 gDNA level exons 1–7 deletion Gross deletions    0.44  
117 gDNA level exon 4 deletion Gross deletions    0.44  
118 cDNA level del incl. ex 5–6 Gross deletions   CG984375 0.44  
119 gDNA level exon 7 deletion Gross deletions    0.44  
120 Complete IDS del Gross deletions    3.5  
121 Recomb. between in. 7 and seq. distal of ex. 3 in IDS-2 without exons deletion Complex rearrangements   CP973598 6.19  
122 Recomb. between in. 7 and seq. distal of ex. 3 in IDS-2 with 4–7 exons deletion Complex rearrangements    1.32