alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Primary = 'Missense'
Primary
1 - 43 of 43
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
164
c.164G>T
p.Cys55Phe
Missense
Exon 2
2
2
215
c.215A>T
p.His72Leu
Missense
Exon 2
2
4
222
c.222C>A
p.Asp74Glu
Missense
Exon 2
1
1
283
c.283G>C
p.Ala95Pro
Missense
Exon 3
4
8
295
c.295T>C
p.Tyr99His
Missense
Exon 3
1
1
304
c.304G>A
p.Asp102Asn
Missense
Exon 3
458
c.458G>T
p.Gly153Val
Missense
Exon 4
2
2
475
c.475G>A
p.Asp159Asn
Missense
Exon 4
1
2
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
685
c.685C>T
p.Arg229Trp
Missense
Exon 5
5
5
788
c.788C>T
p.Pro263Leu
Missense
Exon 6
1
1
953
c.953C>T
p.Ser318Leu
Missense
Exon 7
1
1
1055
c.1055T>C
p.Leu352Pro
Missense
Exon 8
2
4
1063
c.1063A>C
p.Thr355Pro
Missense
Exon 8
1
1
1067
c.1067C>G
p.Pro356Arg
Missense
Exon 8
1
2
1136
c.1136C>T
p.Pro379Leu
Missense
Exon 9
1
1
1168
c.1168G>T
p.Gly390Cys
Missense
Exon 9
1
2
1259
c.1259G>T
p.Gly420Val
Missense
Exon 10
2
2
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>A
p.Ser453Tyr
Missense
Exon 11
1
2
1358
c.1358C>T
p.Ser453Phe
Missense
Exon 11
2
4
1370
c.1370T>A
p.Val457Glu
Missense
Exon 11
2
2
1553
c.1553T>C
p.Leu518Pro
Missense
Exon 13
1694
c.1694T>C
p.Leu565Pro
Missense
Exon 14
1
1
2140
c.2140T>C
p.Trp714Arg
Missense
Exon 17
2
3
2234
c.2234C>G
p.Thr745Arg
Missense
Exon 18
1
2
2248
c.2248C>T
p.Arg750Trp
Missense
Exon 18
74
110
2398
c.2398G>T
p.Gly800Trp
Missense
Exon 20
2
2
2398
c.2398G>C
p.Gly800Arg
Missense
Exon 20
1
1
2402
c.2402G>A
p.Gly801Asp
Missense
Exon 20
2426
c.2426T>C
p.Leu809Pro
Missense
Exon 20
11
12
2671
c.2671G>A
p.Gly891Arg
Missense
Exon 22
1
1
2675
c.2675T>C
p.Leu892Pro
Missense
Exon 22
1
1
2746
c.2746C>A
p.Arg916Ser
Missense
Exon 22
2746
c.2746C>T
p.Arg916Cys
Missense
Exon 22
1
1
2747
c.2747G>A
p.Arg916His
Missense
Exon 22
1
1
2849
c.2849G>C
p.Arg950Pro
Missense
Exon 23
1
1
2867
c.2867T>G
p.Leu956Arg
Missense
Exon 23
2
3
2999
c.2999T>C
p.Phe1000Ser
Missense
Exon 24
1
1
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Primary Mutation Type Distribution