Table 2

IDS gene mutations detected in 29 patients with MPS II2-150

Case NoMutationExonCodonNucleotide changeEffect on codingPhenotypeReferences
Missense
1S71R271AGC→AGAat 213Ser→ArgSevereThis report
2A82E382GCA→GAA at 245Ala→GluNAThis report
3A85T (438T)385GCC→ACC at 253Ala→ThrSevereThis report
4R88C (438T)388CGC→TGC at 262Arg→CysNAThis report
5S333L7333TCG→TTG at 998Ser→LeuSevere 14
6D334G7334GAT→GGT at 1001Asp→GlySevere 14
71006G→A7336G/gt→A/gtSplicing error (?)Severe 14
8A346V (438T)8346GCC→GTC at 1037Ala→ValSevere 15
9R468W9468CGG→TGG at 1402Arg→TrpNAThis report
10/11R468Q/(438T)9468CGG→CAG at 1403Arg→GlnSevere15/this report
12E521V9521GAA→GTA at 1562Glu→ValNAThis report
Nonsense
13Y234X5234TAC→TAAat 702Tyr→termSevere 14
14L279X6279TTA→TGA at 836Leu→termSevere 16
15Q465X9465CAG→TAG at 1393Gln→termSevere 14
16W502X9502TGG→TAG at 1505Trp→termNA 17
Deletions
17ΔR95 (438T)395 2-151GGC aggAGA at 283Lost 1 aaSevereThis report
18383delAT3128 2-151GGCT atGTG at 383FS/PTSevereThis report
19/20596delAACA5199 2-151GACA aacaG at 596FS/PTSevereThis report
211148delC8383 2-151GACC c TTTT at 1148FS/PTSevereThis report
221216delCT9406 2-151TCT ctTTTT at 1216FS/PTNAThis report
231220delTT9407 2-151CTTT ttCCC at 1220FS/PTSevere 17
Insertion
24208insC (438T)270 2-151TCCC cACAGC after 208FS/PTNAThis report
251063insA8355 2-151GCTA aCCCAT after 1063FS/PTSevereThis report
261269insCC (438T)9423 2-151TGCCCC ccGTT after 1269FS/PTSevere 15
Splicing
271006+5g→c(IVS-7)g→c at 1006+5Splicing in 22 nuctNAThis report
281122C→T8374AGGC→AG/gt Lost 20 aaNAThis report
Large deletion
29Intragenic deldel exons 4-7Aberrant transcriptsSevereThis report
Polymorphism
438C/T4146ACC→ACTSilent mutation15
  • 2-150 Nucleotide numbered from translational initiation site.9

  • Underline denotes mutant nucleotide or nucleotide immediately before insertion.

  • 2-151 Denotes the wild type codon before deletion or insertion.

  • Small capital letters denote deleted or inserted nucleotides.

  • aa = amino acid, del = deletion, ins = insertion, IVS = intervening sequence (intron), FS = frameshifting, PT = premature termination, term = stop codon, NA = clinical data not available for subtype classification.