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

Mutations

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	283	c.283G>C	p.Ala95Pro	Missense	Exon 3	4	8

1 - 1 of 1

c.283G>C, p.Ala95Pro

The sequence variant c.283G>C in exon 3 changes alanine in position 95 to proline (p.Ala95Pro). Studies in transfected cells show that p.Pro95 is inactive, but processed and localized to the lysosomes in one cell-type, but retained in the ER in another cell-type. p.Ala95 is located in the dimer interface and 3d-modelling indicates that the substitution changes the dimerization properties of the enzyme which may make the enzyme more susceptible to degradation.

Mutation Details

Mutation type

Missense

Localization

Exon 3

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Abnormal

Intracellular localization*

Secreted into medium*

Yes

3D-model

Loop over the active site; dimer interface (α/β)

*= in transfected mammalian cells

Additional experimental data

Residual activity in BHK-21 cells*

Residual activity in CHO-KI cells*

Intracellular localization in CHO-KI cells*

Abnormal

Secreted into medium in CHO-KI cells*

Yes

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.283G>C / p.Ala95Pro

1-4

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
155	***	Turkey	***		c.283G>C	p.Ala95Pro	c.283G>C	p.Ala95Pro		***
156	***	Turkey	***		c.283G>C	p.Ala95Pro	c.283G>C	p.Ala95Pro		***
157	***	Turkey	***	Type 2	c.283G>C	p.Ala95Pro	c.283G>C	p.Ala95Pro	Yes	***
183	***	Turkey	***	Type 2	c.283G>C	p.Ala95Pro	c.283G>C	p.Ala95Pro		***

1-4

Primary Mutation Type Distribution