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

Mutations

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ToggleEditMutation = 'c.2746C>T'

Mutation

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2746	c.2746C>T	p.Arg916Cys	Missense	Exon 22	1	1

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c.2746C>T, p.Arg916Cys

The sequence variant c.2746C>T in exon 22 changes arginine in position 916 to cysteine (p.Arg916Cys). Studies in transfected cells show that p.Cys916 is inactive, not processed and retained in the ER. p.Arg916 is located to a domain interface, and 3d-modelling indicates that p.Arg916Cys 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

Domain interface between β3 and α/β (β3)

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.2746C>T / p.Arg916Cys

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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
63	***	France	***	Type 3	c.2248C>T	p.Arg750Trp	c.2746C>T	p.Arg916Cys		***

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Primary Mutation Type Distribution