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 6'
Exon/Intron
1 - 6 of 6
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
783
c.783C>A
p.Tyr261*
Nonsense
Exon 6
1
2
788
c.788C>T
p.Pro263Leu
Missense
Exon 6
1
1
809
c.809dupA
p.Asp270Glufs*54
Duplication
Exon 6
1
1
812
c.812_813dupTG
p.Leu272Cysfs*27
Duplication
Exon 6
1
2
832
c.832C>G
p.Leu278Val
Benign
Exon 6
844
c.844C>T
p.Pro282Ser
Benign
Exon 6
1 - 6 of 6
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Primary Mutation Type Distribution