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 11'
Exon/Intron
1 - 9 of 9
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
1333
c.1333C>T
p.His445Tyr
Missense
Exon 11
2
4
1351
c.1351G>T
p.Gly451Cys
Missense
Exon 11
3
3
1358
c.1358C>T
p.Ser453Phe
Missense
Exon 11
2
4
1358
c.1358C>A
p.Ser453Tyr
Missense
Exon 11
1
2
1370
c.1370T>A
p.Val457Glu
Missense
Exon 11
2
2
1383
c.1383C>A
p.Tyr461*
Nonsense
Exon 11
6
6
1383
c.1383C>G
p.Tyr461*
Nonsense
Exon 11
1
2
1388
c.1388_1389delGC
p.Arg463Profs*53
Deletion
Exon 11
2
2
1390
c.1390C>T
p.Gln464*
Nonsense
Exon 11
1
1
1 - 9 of 9
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Primary Mutation Type Distribution