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

Mutations

Reset Report

Report Settings

ToggleEditMutation = 'c.475G>A'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	475	c.475G>A	p.Asp159Asn	Missense	Exon 4	1	2

1 - 1 of 1

c.475G>A, p.Asp159Asn

The sequence variant c.475G>A in exon 4 changes aspartic acid in position 159 to asparagine (p.Asp159Asn). Studies in transfected cells show that p.Asn159 is inactive, but processed correctly and localized to the lysosomes. p.Asp159 is located in the proximity of the active site.

Mutation Details

Mutation type

Missense

Localization

Exon 4

Number of Patients

Detected

2

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Turn between barrel strand and helix (α/β)

*= 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

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.475G>A / p.Asp159Asn

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
144	***	Switzerland	***		c.475G>A	p.Asp159Asn	c.475G>A	p.Asp159Asn		***

1-1

Primary Mutation Type Distribution