alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Exon/Intron = 'Exon 19'
Exon/Intron
1 - 4 of 4
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2278
c.2278C>T
p.Arg760*
Nonsense
Exon 19
2299
c.2299C>T
p.Gln767*
Nonsense
Exon 19
4
6
2332
c.2332_2335delGTCA
p.Val778Thrfs*13
Deletion
Exon 19
1
2
2355
c.2355G>A
p.Arg757Metfs*6
Splice
Exon 19
5
6
1 - 4 of 4
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Primary Mutation Type Distribution