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

Mutations

Reset Report

Report Settings

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	953	c.953C>T	p.Ser318Leu	Missense	Exon 7	1	1

1 - 1 of 1

c.953C>T, p.Ser318Leu

The sequence variant c.953C>T in exon 7 changes serine in position 318 to leucine (p.Ser318Leu). Studies in transfected cells show that p.Leu318 is processed correctly, localized to the lysosomes and has retained some residual activity. p.Ser318 is located on the surface close to the disulphide bridge between p.Cys268 and p.Cys273.

Mutation Details

Mutation type

Missense

Localization

Exon 7

Number of Patients

Detected

1

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Surface, close to disulfide C268-C273 (α/β)

*= in transfected mammalian cells

Additional experimental data

Residual activity in BHK-21 cells*

Intracellular processing in BHK-21 cells*

Secreted into medium in BHK-21 cells*

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.953C>T / p.Ser318Leu

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
188	***	United Kingdom	***	Type 2	c.909+731del6272	p.Gly304_Asp548del245	c.953C>T	p.Ser318Leu		***

1-1

Primary Mutation Type Distribution