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 21'
Exon/Intron
1 - 5 of 5
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2439
c.2439_2444dup6
p.His814_Arg815dup
Duplication
Exon 21
1
1
2443
c.2443C>T
p.Arg815*
Nonsense
Exon 21
1
1
2515
c.2515C>T
p.Arg839*
Nonsense
Exon 21
1
1
2548
c.2548delC
p.Gln850Argfs*74
Deletion
Exon 21
2
4
2587
c.2587G>T
p.Glu863*
Nonsense
Exon 21
1
1
1 - 5 of 5
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Primary Mutation Type Distribution