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
	436	c.436+145del644	p.Gly146Aspfs*12	Large deletion	Intron 3	1	1

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c.436+145del644, p.Gly146Aspfs*12

The sequence variant c.436+145del644 deletes 644 bp of the MAN2B1 gene, including exon 4 and flanking intronic sequences. The effect on the transcript is not known, but if exon 4 is deleted (c.437_630del194), this is predicted to result in a truncated, non-functional protein (p.Gly146AspfsX12).

Mutation Details

Mutation type

Large deletion

Localization

Intron 3

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.436+145del644 / p.Gly146Aspfs*12

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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
53	***	Poland	***	Type 2	c.436+145del644	p.Gly146Aspfs*12	c.2248C>T	p.Arg750Trp		***

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Primary Mutation Type Distribution