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 9'
Exon/Intron
1 - 6 of 6
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1136
c.1136C>T
p.Pro379Leu
Missense
Exon 9
1
1
1152
c.1152_1153dupCC
p.His385Profs*93
Duplication
Exon 9
3
4
1156
c.1156dupC
p.Gln386ProfxS53
Duplication
Exon 9
2
2
1168
c.1168G>T
p.Gly390Cys
Missense
Exon 9
1
2
1197
c.1197dupA
p.Arg400Thrfs*39
Duplication
Exon 9
1
2
1204
c.1204G>A
p.Glu402Lys
Benign
Exon 9
1
1
1 - 6 of 6
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Primary Mutation Type Distribution