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.Arg229Trp'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	685	c.685C>T	p.Arg229Trp	Missense	Exon 5	5	5

1 - 1 of 1

c.685C>T, p.Arg229Trp

The sequence variant c.685C>T in exon 5 changes arginine in position 229 to tryptophan (p.Arg229Trp). Studies in transfected cells show that p.Trp229 is processed correctly, localized to the lysosomes and has retained some activity. p.Arg229 is located near the surface of the enzyme, and is conserved among species. Alpha-mannosidosis guinea-pigs are homozygous for the corresponding missense mutation (p.Arg227Trp), and in transfected cells, the guinea pig MAN2B1 p.227Arg is inactive.

Mutation Details

Mutation type

Missense

Localization

Exon 5

Number of Patients

Detected

Experimental data

Residual activity*

Yes

Intracellular processing*

Yes

Intracellular localization*

Lysosomal

Secreted into medium*

Yes

3D-model

Surface helix, interior (α/β)

*= 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

Berg and Hopwood 2001

Patients w/ c.685C>T / p.Arg229Trp

1-5

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
73	***	New Zealand	***	Type 2	c.685C>T	p.Arg229Trp	c.1830+1G>C	p.Val549_Glu610del	Yes	***
88	***	United States	***	Type 2	c.685C>T	p.Arg229Trp	c.2248C>T	p.Arg750Trp	Yes	***
115	***	New Zealand	***	Type 2	c.685C>T	p.Arg229Trp	c.1830+1G>C	p.Val549_Glu610del	Yes	***
121	***	Jamaica	***	Type 2	c.685C>T	p.Arg229Trp	c.1929G>A	p.Trp643*	Yes	***
175	***	United Kingdom	***	Type 1	c.685C>T	p.Arg229Trp	c.2439_2444dup6	p.His814_Arg815dup		***

1-5

Primary Mutation Type Distribution