alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Exon/Intron = 'Intron 12'
Exon/Intron
1 - 3 of 3
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1527
c.1527+2T>G
p.Val474_Arg509del36
Splice
Intron 12
3
6
1527
c.1527+2T>A
p.Val474_Arg509del36
p.Phe510Valfs*15
Splice
Intron 12
1
1
1527
c.1527+1G>C
No experimental data
Splice
Intron 12
1
2
1 - 3 of 3
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Primary Mutation Type Distribution