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 18'
Exon/Intron
1 - 4 of 4
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
2219
c.2219delA
p.Lys740Argfs*26
Deletion
Exon 18
1
1
2234
c.2234C>G
p.Thr745Arg
Missense
Exon 18
1
2
2248
c.2248C>T
p.Arg750Trp
Missense
Exon 18
74
110
2251
c.2251G>T
p.Glu751*
Nonsense
Exon 18
1
1
1 - 4 of 4
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Primary Mutation Type Distribution