alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Primary = 'Deletion'
Primary
1 - 18 of 18
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
152
c.152delG
p.Gly51Aspfs*13
Deletion
Exon 1
1
2
241
c.241delG
p.Val81Trpfs*76
Deletion
Exon 2
1
1
422
c.422delA
p.Asp141Alafs*16
Deletion
Exon 3
3
3
561
c.561delG
p.Arg188Aspfs*58
Deletion
Exon 4
2
2
965
c.965_966delAT
p.Tyr322*
Deletion
Exon 7
1
2
1388
c.1388_1389delGC
p.Arg463Profs*53
Deletion
Exon 11
2
2
1519
c.1519delG
p.Ala507Argfs*16
Deletion
Exon 12
1
2
1548
c.1548delT
p.Leu518Trpfs*5
Deletion
Exon 13
1
1
1816
c.1816delA
p.Thr606Profs*18
Deletion
Exon 14
3
3
2013
c.2013delT
p.Val672*
Deletion
Exon 16
1
2
2219
c.2219delA
p.Lys740Argfs*26
Deletion
Exon 18
1
1
2332
c.2332_2335delGTCA
p.Val778Thrfs*13
Deletion
Exon 19
1
2
2548
c.2548delC
p.Gln850Argfs*74
Deletion
Exon 21
2
4
2660
c.2660delC
p.Thr887Serfs*45
Deletion
Exon 22
2667
c.2667_2668delCT
p.Ser890Argfs*40
Deletion
Exon 22
1
2
2851
c.2851delC
p.Leu951Cysfs*82
Deletion
Exon 23
1
2
2921
c.2921_2922delCA
p.Thr974Argfs*80
Deletion
Exon 23
1
2
2944
c.2944_2947del
p.Pro982Thrfs*50
Deletion
Exon 24
1
1
1 - 18 of 18
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Primary Mutation Type Distribution