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.1333C>T'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1333	c.1333C>T	p.His445Tyr	Missense	Exon 11	2	4

1 - 1 of 1

c.1333C>T, p.His445Tyr

The sequence variant c.1333C>T in exon 11 changes histidine in position 445 to tyrosine (p.His445Tyr). Studies in transfected cells show that p.Tyr445 is inactive, not processed and retained in the ER. p.His445 is located in the active site area.

Mutation Details

Mutation type

Missense

Localization

Exon 11

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Intracellular localization*

Secreted into medium*

Yes

3D-model

Active site area (3α)

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.1333C>T / p.His445Tyr

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
148	***	Turkey	***	Type 2	c.1333C>T	p.His445Tyr	c.1333C>T	p.His445Tyr	Yes	***

1-1

Primary Mutation Type Distribution