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 22'
Exon/Intron
1 - 12 of 12
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2660
c.2660delC
p.Thr887Serfs*45
Deletion
Exon 22
2667
c.2667_2668delCT
p.Ser890Argfs*40
Deletion
Exon 22
1
2
2669
c.2669C>G
p.Ser890*
Nonsense
Exon 22
2
2
2671
c.2671G>A
p.Gly891Arg
Missense
Exon 22
1
1
2675
c.2675T>C
p.Leu892Pro
Missense
Exon 22
1
1
2675
c.2675dupT
p.Arg893Alafs*38
Duplication
Exon 22
1
1
2724
c.2724G>A
p.Trp908*
Nonsense
Exon 22
2
3
2727
c.2727_2745dup19
p.Arg916Profs*21
Duplication
Exon 22
2
4
2746
c.2746C>T
p.Arg916Cys
Missense
Exon 22
1
1
2746
c.2746C>A
p.Arg916Ser
Missense
Exon 22
2747
c.2747G>A
p.Arg916His
Missense
Exon 22
1
1
2802
c.2802dupC
p.Val935Argfs*120
Duplication
Exon 22
1
2
1 - 12 of 12
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Primary Mutation Type Distribution