alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Primary = 'Duplication'
Primary
1 - 18 of 18
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
293
c.293dupA
p.Tyr99Valfs*62
Duplication
Exon 3
1
2
338
c.338_348dup11
p.Ile117Profs*44
Duplication
Exon 3
1
2
484
c.484_487dupGCCA
p.Thr163Serfs*25
Duplication
Exon 4
1
2
809
c.809dupA
p.Asp270Glufs*54
Duplication
Exon 6
1
1
812
c.812_813dupTG
p.Leu272Cysfs*27
Duplication
Exon 6
1
2
1047
c.1047_1048dupCC
p.His350Profs*15
Duplication
Exon 8
1076
c.1076dupA
p.Tyr359*
Duplication
Exon 8
1
2
1152
c.1152_1153dupCC
p.His385Profs*93
Duplication
Exon 9
3
4
1156
c.1156dupC
p.Gln386ProfxS53
Duplication
Exon 9
2
2
1197
c.1197dupA
p.Arg400Thrfs*39
Duplication
Exon 9
1
2
1858
c.1858dupA
p.Thr620Asnfs*31
Duplication
Exon 15
2
4
2402
c.2402dupG
p.Ser802Glnfs*129
Duplication
Exon 20
5
7
2439
c.2439_2444dup6
p.His814_Arg815dup
Duplication
Exon 21
1
1
2675
c.2675dupT
p.Arg893Alafs*38
Duplication
Exon 22
1
1
2727
c.2727_2745dup19
p.Arg916Profs*21
Duplication
Exon 22
2
4
2802
c.2802dupC
p.Val935Argfs*120
Duplication
Exon 22
1
2
2900
c.2900_2901dupGG
p.Leu968Glyfs*66
Duplication
Exon 23
2
2
2920
c.2920dupA
p.Thr974Asnfs*81
Duplication
Exon 23
1
2
1 - 18 of 18
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Primary Mutation Type Distribution