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

Mutations

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1067	c.1067C>G	p.Pro356Arg	Missense	Exon 8	1	2

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c.1067C>G, p.Pro356Arg

The sequence variant c.1067C>G in exon 8 changes proline in position 356 to arginine (p.Pro356Arg). Studies in transfected cells show that p.Arg356 is inactive, not processed and retained in the ER. p.Pro356 is located in the active site domain, and 3d-modelling indicates that p.Thr355Pro may interfere with formation of a disulphide-bridge and cause misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 8

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Initiation of α-helix and disulphide bond C55-C358 (α/β)

*= in transfected mammalian cells

Additional experimental data

Residual activity in CHO-KI cells*

Intracellular localization in CHO-KI cells*

Secreted into medium in CHO-KI cells*

*= in transfected mammalian cells

References

Gotoda et al. 1998

Hansen et al. 2004

Berg et al. 1999

Patients w/ c.1067C>G / p.Pro356Arg

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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
17	***	United States	***	Type 2	c.1067C>G	p.Pro356Arg	c.1067C>G	p.Pro356Arg		***

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Primary Mutation Type Distribution