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 5'
Exon/Intron
1 - 5 of 5
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
662
c.662G>A
p.Arg221His
Animal model
Exon 5
685
c.685C>T
p.Arg229Trp
Missense
Exon 5
5
5
709
c.709C>T
p.Gln237*
Nonsense
Exon 5
2
2
743
c.743C>T
p.Pro248Leu
Benign
Exon 5
747
c.747C>T
p.= (silent)
Benign
Exon 5
1 - 5 of 5
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Primary Mutation Type Distribution