alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
Home
Contacts
Mutations
Experiments
Patients and Genotypes
Clinical Data
Login
Experimental Data
Additional Experiments
Search Experiments
Curator Access
Access unpublished data
Mutations
Reset Report
Go
Actions
Report Settings
Toggle
Edit
Primary = 'Nonsense'
Primary
1 - 25 of 25
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
157
c.157G>T
p.Glu53*
Nonsense
Exon 1
231
c.231G>A
p.Trp77*
Nonsense
Exon 2
1
1
383
c.383G>A
p.Trp128*
Nonsense
Exon 3
418
c.418C>T
p.Arg140*
Nonsense
Exon 3
3
4
478
c.478G>A
p.Trp193*
Nonsense
Exon 4
1
1
562
c.562C>T
p.Arg188*
Nonsense
Exon 4
709
c.709C>T
p.Gln237*
Nonsense
Exon 5
2
2
783
c.783C>A
p.Tyr261*
Nonsense
Exon 6
1
2
1077
c.1077C>A
p.Tyr359*
Nonsense
Exon 8
2
2
1109
c.1109G>A
p.Trp370*
Nonsense
Exon 8
2
4
1383
c.1383C>G
p.Tyr461*
Nonsense
Exon 11
1
2
1383
c.1383C>A
p.Tyr461*
Nonsense
Exon 11
6
6
1390
c.1390C>T
p.Gln464*
Nonsense
Exon 11
1
1
1687
c.1687G>T
p.Glu563*
Nonsense
Exon 14
3
6
1915
c.1915C>T
p.Gln639*
Nonsense
Exon 15
1
1
1929
c.1929G>A
p.Trp643*
Nonsense
Exon 16
1
1
2251
c.2251G>T
p.Glu751*
Nonsense
Exon 18
1
1
2278
c.2278C>T
p.Arg760*
Nonsense
Exon 19
2299
c.2299C>T
p.Gln767*
Nonsense
Exon 19
4
6
2368
c.2368C>T
p.Gln790*
Nonsense
Exon 20
2
4
2443
c.2443C>T
p.Arg815*
Nonsense
Exon 21
1
1
2515
c.2515C>T
p.Arg839*
Nonsense
Exon 21
1
1
2587
c.2587G>T
p.Glu863*
Nonsense
Exon 21
1
1
2669
c.2669C>G
p.Ser890*
Nonsense
Exon 22
2
2
2724
c.2724G>A
p.Trp908*
Nonsense
Exon 22
2
3
1 - 25 of 25
Search
Primary Mutation Type Distribution