alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Primary = 'Splice'
Primary
1 - 20 of 20
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
764
c.764-1G>C
p.Val256_Gly260del5
Splice
Intron 5
1
1
1026
c.1026+2T>G
p.Gln339_Val342del4
Splice
Intron 7
8
10
1309
c.1309+1G>T
p.Val411Metfs*40
Splice
Intron 10
1
1
1310
c.1310-2A>G
Not expressed
Splice
Intron 10
1
1
1420
c.1420-3del25
p.Val474_Arg509del36
p.Val474_Gln495del22
Splice
Intron 11
1
1
1527
c.1527+2T>A
p.Val474_Arg509del36
p.Phe510Valfs*15
Splice
Intron 12
1
1
1527
c.1527+2T>G
p.Val474_Arg509del36
Splice
Intron 12
3
6
1527
c.1527+1G>C
No experimental data
Splice
Intron 12
1
2
1645
c.1645-1G>A
No experimental data
Splice
Intron 13
1
1
1830
c.1830+1G>A
No experimental data
Splice
Intron 14
1
1
1830
c.1830+1G>C
p.Val549_Glu610del
Splice
Intron 14
20
22
1831
c.1831-2A>G
p.His611Glyfs*3
Splice
Intron 14
4
6
1929
c.1929-2A>G
No experimental data
Splice
Intron 15
1
2
2165
c.2165+1G>A
p.Thr683Argfs*12
p.Trp714Cys_Ser715Gly722del8
Splice
Intron 17
2
4
2165
c.2165+1G>T
p.Thr683Argfs*12
p.Trp714Cys_Ser715Gly722del8
Splice
Intron 17
2
2
2355
c.2355G>A
p.Arg757Metfs*6
Splice
Exon 19
5
6
2355
c.2355+1G>C
p.Arg757Metfs*6
Splice
Intron 19
1
2
2436
c.2436+1G>A
p.Asp786_Met812del27
Splice
Intron 20
1
2
2436
c.2436+5G>A
p.Asp786_Met812del27
Splice
Intron 20
1
1
2437
c.2437-2A>G
p.His814Leufs*41
Splice
Intron 20
1
2
1 - 20 of 20
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Primary Mutation Type Distribution