alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Mutation = 'c.458G>T'
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Benign Mutations
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Animal Model
Mutation
2
Benign Mutations, Animal Model
1 - 1 of 1
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
458
c.458G>T
p.Gly153Val
Missense
Exon 4
2
2
1 - 1 of 1
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c.458G>T, p.Gly153Val
Mutation Details
Mutation type
Missense
Localization
Exon 4
Number of Patients
2
Detected
2
Experimental data
Residual activity*
No
Intracellular processing*
Yes
Intracellular localization*
Lysosomal
Secreted into medium*
Yes, weak
3D-model
Destabilisation of the α/β-domain and interface to β3
*= in transfected mammalian cells
References
Borgwardt et al. 2015
Patients w/ c.458G>T / p.Gly153Val
no data found
Primary Mutation Type Distribution