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

Mutations

Reset Report

Report Settings

ToggleEditProtein contains 'p.Arg916His'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2747	c.2747G>A	p.Arg916His	Missense	Exon 22	1	1

1 - 1 of 1

c.2747G>A, p.Arg916His

The sequence variant c.2746C>T in exon 22 changes arginine in position 916 to histidine(p.Arg916His). Studies in transfected cells show that p.His916 is inactive, not processed and retained in the ER. p.Arg916 is located to a domain interface, and 3d-modelling indicates that p.Arg916His 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

Additional experimental data

Residual activity in BHK-21 cells*

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.2747G>A / p.Arg916His

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
223	***	Germany	***	Type 2	c.2747G>A	p.Arg916His	c.2426T>C	p.Leu809Pro		***

1-1

Primary Mutation Type Distribution