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 4'
Exon/Intron
1 - 10 of 10
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
458
c.458G>T
p.Gly153Val
Missense
Exon 4
2
2
475
c.475G>A
p.Asp159Asn
Missense
Exon 4
1
2
478
c.478G>A
p.Trp193*
Nonsense
Exon 4
1
1
484
c.484_487dupGCCA
p.Thr163Serfs*25
Duplication
Exon 4
1
2
561
c.561delG
p.Arg188Aspfs*58
Deletion
Exon 4
2
2
562
c.562C>T
p.Arg188*
Nonsense
Exon 4
590
c.590C>G
p.Pro197Arg
Missense
Exon 4
1
1
598
c.598C>A
p.His200Asn
Missense
Exon 4
2
2
599
c.599A>T
p.His200Leu
Missense
Exon 4
2
2
605
c.605G>C
p.Arg202Pro
Missense
Exon 4
1
2
1 - 10 of 10
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Primary Mutation Type Distribution