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
	2671	c.2671G>A	p.Gly891Arg	Missense	Exon 22	1	1

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c.2671G>A, p.Gly891Arg

The sequence variant c.2671G>A in exon 22 changes glycine in position 891 to arginine (p.Gly891Arg). Studies in transfected cells show that p.Arg892 is inactive, not processed and retained in the ER. p.Gly891 is located in a hinge and 3d-modelling indicates that p.Gly891Arg causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 22

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Hinge between β1 and β3

*= in transfected mammalian cells

Additional experimental data

Residual activity in BHK-21 cells*

Yes

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.2671G>A / p.Gly891Arg

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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
78	***	Gabon	***	Type 2	c.478G>A	p.Trp193*	c.2671G>A	p.Gly891Arg	Yes	***

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Primary Mutation Type Distribution