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 2'
Exon/Intron
1 - 5 of 5
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
164
c.164G>T
p.Cys55Phe
Missense
Exon 2
2
2
215
c.215A>T
p.His72Leu
Missense
Exon 2
2
4
222
c.222C>A
p.Asp74Glu
Missense
Exon 2
1
1
231
c.231G>A
p.Trp77*
Nonsense
Exon 2
1
1
241
c.241delG
p.Val81Trpfs*76
Deletion
Exon 2
1
1
1 - 5 of 5
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Primary Mutation Type Distribution