alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis

Mutations

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ToggleEditProtein contains 'p.Trp714Arg'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2140	c.2140T>C	p.Trp714Arg	Missense	Exon 17	2	3

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c.2140T>C, p.Trp714Arg

The sequence variant c.2140T>C in exon 17 changes tryptophan in position 714 to arginine (p.Trp714Arg). Studies in transfected cells show that p.Arg714 is inactive, not processed and retained in the ER. p.Trp714 is located in the interior of the enzyme and 3d-modelling indicates that p.Trp714Arg causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 17

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Interior of large β-domain (β2)

*= in transfected mammalian cells

Additional experimental data

Residual activity in CHO-KI cells*

Intracellular localization in CHO-KI cells*

Secreted into medium in CHO-KI cells*

*= in transfected mammalian cells

References

Hansen et al. 2004

Berg et al. 1999

Patients w/ c.2140T>C / p.Trp714Arg

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PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
14	***	Spain	***	Type 2	c.2140T>C	p.Trp714Arg	c.2140T>C	p.Trp714Arg	Yes	***
137	***	Canada	***	Type 1	c.1383C>A	p.Tyr461*	c.2140T>C	p.Trp714Arg		***

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Primary Mutation Type Distribution