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

Mutations

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ToggleEditProtein contains 'p.Leu956Arg'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2867	c.2867T>G	p.Leu956Arg	Missense	Exon 23	2	3

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c.2867T>G, p.Leu956Arg

The sequence variant c.2867T>G in exon 23 changes leucine in position 956 to arginine (p.Leu956Arg). Studies in transfected cells show that p.Arg956 is inactive, not processed and retained in the ER. p.Leu956 is located to a domain interface, and 3d-modelling indicates that p.Leu956Arg causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 23

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

Additional experimental data

Residual activity in BHK-21 cells*

Some

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.2867T>G / p.Leu956Arg

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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
1	***	Pakistan	***	Type 2	c.2867T>G	p.Leu956Arg	c.2867T>G	p.Leu956Arg		***

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Primary Mutation Type Distribution