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

Mutations

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ToggleEditExon/Intron = 'Exon 24'

Exon/Intron

1 - 2 of 2

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2944	c.2944_2947del	p.Pro982Thrfs*50	Deletion	Exon 24	1	1
	2999	c.2999T>C	p.Phe1000Ser	Missense	Exon 24	1	1

1 - 2 of 2

Primary Mutation Type Distribution