Table 8. [Notable IDUA Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change	Comment [Reference] ²
NM_000203.3 NP_000194.2	c.235G>A	p.Ala79Thr	Pseudodeficiency variants
c.246C>G	p.His82Gln
c.667G>A	p.Asp223Asn
c.787A>T	p.Arg263Trp
c.965T>A	p.Val322Glu
c.1081G>A	p.Ala361Thr
c.1757C>T	p.Ser586Phe
c.152G>A	p.Gly51Asp	Common pathogenic variant in Italy
c.208C>T	p.Gln70Ter	Common variant in Europe & Russia; assoc w/severe MPS I
c.266G>A	p.Arg89Gln	Common pathogenic variant in Japan; causes attenuated MPS I May change ability of α-L-iduronidase to affect catalysis Deleterious effect appears to be potentiated by a polymorphism, p.Ala361Thr [Leroy 2003].
c.613_617dupTGCTC (704ins5)	p.Glu207AlafsTer29	Common pathogenic variant in Japan
c.590-7G>A	--	Variant causes attenuated MPS I; creates alternate splice site, but (as old splice site is not obliterated) some normal enzyme is produced.
c.979G>C	p.Ala327Pro	Common pathogenic variant in Europe
c.1029C>A	p.Tyr343Ter	Variant causes attenuated MPS I; premature stop codon used as an acceptor splice site, generating an in-frame deletion [Lee-Chen & Wang 1997].
c.1205G>A	p.Trp402Ter	Common pathogenic variant in persons of European ancestry & Australasia
c.1598C>G	p.Pro533Arg	Common pathogenic variant in Italy
c.1960T>G	p.Ter654Gly	Variants cause attenuated MPS I; predict extension of α-L-iduronidase at the carboxyl end that may change conformation &/or stability of enzyme.
c.1960T>C	p.Ter654Arg

Reference Sequences

DNA Nucleotide Change (Alias ¹)

Predicted Protein Change

Comment [Reference] ²

NM_000203.3
NP_000194.2

c.235G>A

p.Ala79Thr

Pseudodeficiency variants

c.246C>G

p.His82Gln

c.667G>A

p.Asp223Asn

c.787A>T

p.Arg263Trp

c.965T>A

p.Val322Glu

c.1081G>A

p.Ala361Thr

c.1757C>T

p.Ser586Phe

c.152G>A

p.Gly51Asp

Common pathogenic variant in Italy

c.208C>T

p.Gln70Ter

Common variant in Europe & Russia; assoc w/severe MPS I

c.266G>A

p.Arg89Gln

Common pathogenic variant in Japan; causes attenuated MPS I
May change ability of α-L-iduronidase to affect catalysis
Deleterious effect appears to be potentiated by a polymorphism, p.Ala361Thr [Leroy 2003].

c.613_617dupTGCTC
(704ins5)

p.Glu207AlafsTer29

Common pathogenic variant in Japan

c.590-7G>A

Variant causes attenuated MPS I; creates alternate splice site, but (as old splice site is not obliterated) some normal enzyme is produced.

c.979G>C

p.Ala327Pro

Common pathogenic variant in Europe

c.1029C>A

p.Tyr343Ter

Variant causes attenuated MPS I; premature stop codon used as an acceptor splice site, generating an in-frame deletion [Lee-Chen & Wang 1997].

c.1205G>A

p.Trp402Ter

Common pathogenic variant in persons of European ancestry & Australasia

c.1598C>G

p.Pro533Arg

Common pathogenic variant in Italy

c.1960T>G

p.Ter654Gly

Variants cause attenuated MPS I; predict extension of α-L-iduronidase at the carboxyl end that may change conformation &/or stability of enzyme.

c.1960T>C

p.Ter654Arg

From: Mucopolysaccharidosis Type I

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