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

Mutations

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ToggleEditMutation = 'c.164G>T'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	164	c.164G>T	p.Cys55Phe	Missense	Exon 2	2	2

1 - 1 of 1

c.164G>T, p.Cys55Phe

The sequence variant c.164G>T in exon 2 changes cysteine in position 55 to phenylalanine (p.Cys55Phe). Studies in transfected cells show that p.Phe55 is inactive, not processed and retained in the ER. p.Cys55 forms a disulphide bridge with p.Cys358, and 3d-modelling indicates that p.Cys55Phe causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 2

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Disulfide on C55-C358 locks initial β-strand on B-peptide (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.164G>T / p.Cys55Phe

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
190	***	Italy	***	Type 2	c.164G>T	p.Cys55Phe	c.599A>T	p.His200Leu		***
191	***	Italy	***	Type 2	c.164G>T	p.Cys55Phe	c.599A>T	p.His200Leu		***

1-2

Primary Mutation Type Distribution