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
	1259	c.1259G>T	p.Gly420Val	Missense	Exon 10	2	2

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c.1259G>T, p.Gly420Val

The sequence variant c.1259G>T in exon 10 changes glycine in position 420 to valine (p.Gly420Val). Studies in transfected cells show that p.Val420 is inactive, abnormally porcessed but localised to the lysosomes. 3d-modelling indicates that p.Gly420Val may interfere with the folding process.

Mutation Details

Mutation type

Missense

Localization

Exon 10

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Abnormal

Intracellular localization*

Lysosomal

Secreted into medium*

3D-model

Turn preceding the proteolytic site between B and C-peptides (3α)

*= in transfected mammalian cells

Additional experimental data

Residual activity in BHK-21 cells*

Some

Residual activity in CHO-KI cells*

Yes

Intracellular localization in CHO-KI cells*

Abnormal

Secreted into medium in CHO-KI cells*

*= in transfected mammalian cells

References

Castelnovo et al. 2007

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.1259G>T / p.Gly420Val

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
132	***	France	***	Pseudo?	c.1259G>T	p.Gly420Val	c.2900_2901dupGG	p.Leu968Glyfs*66		***
142	***	France	***	Asymptomat	c.1259G>T	p.Gly420Val	c.2900_2901dupGG	p.Leu968Glyfs*66		***

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Primary Mutation Type Distribution