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A currative database for lysosomal storage disorder

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α-Mannosidosis

The disease is caused due to the defective α-mannosidase. The disease is charachterized by the presence of urinary secretion of mannose rich oligosaccharides. However, diagnosis is made by checking the mannosidase activity in leukocytes and other nucleated cells like fibroblasts. The gene encoding the defective protein, MAN2B1 is located at 19p13.2-p13.11 (Malm and Nilssen, 2008).

Reference :
Malm, D. and Nilssen, Ø. (2008) ‘Alpha-mannosidosis’, Orphanet Journal of Rare Diseases, 3(1), p. 21. doi: 10.1186/1750-1172-3-21.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
C55F Disease Disease Disease Neutral Disease Disease
H72L Disease Disease Disease Disease Disease Disease
D74E Disease Disease Disease Disease Disease Disease
A95P Disease Disease Disease Disease Disease Disease
Y99H Disease Disease Disease Neutral Neutral Disease
D159N Disease Disease Disease Disease Disease Disease
P197R Disease Disease Disease Disease Disease Disease
H200L Disease Disease Disease Disease Disease Disease
H200N Disease Disease Disease Disease Disease Disease
R202P Disease Disease Disease Neutral Disease Disease
R229W Disease Disease Disease Disease Disease Disease
P263L Disease Disease Disease Neutral Neutral Disease
S318L Disease Neutral Disease Neutral Neutral Neutral
L352P Disease Disease Disease Disease Disease Disease
T355P Disease Disease Disease Neutral Disease Disease
P356R Disease Disease Disease Disease Disease Disease
P379L Disease Disease Disease Disease Disease Disease
G390C Disease Disease Disease Disease Disease Disease
E402K Disease Disease Disease Neutral Disease Disease
G420V Disease Neutral Disease Neutral Neutral Disease
H445Y Disease Disease Disease Disease Disease Disease
G451C Disease Disease Disease Disease Disease Disease
S453F Disease Disease Disease Disease Disease Disease
S453Y Disease Disease Disease Disease Disease Disease
V457E Disease Disease Disease Disease Disease Disease
C501S Disease Disease Disease Neutral Disease Disease
L565P Disease Disease Disease Neutral Neutral Disease
W714R Disease Disease Disease Disease Disease Disease
T745R Disease Disease Disease Disease Disease Disease
R750W Disease Disease Disease Disease Disease Disease
G800R Disease Disease Disease Disease Disease Disease
G800W Disease Disease Disease Disease Disease Disease
G801D Disease Disease Disease Disease Disease Disease
L809P Disease Disease Disease Disease Disease Disease
G891R Neutral Neutral Neutral Neutral Neutral Neutral
L892P Neutral Disease Neutral Neutral Neutral Disease
R916C Disease Disease Disease Neutral Disease Disease
R916H Disease Disease Disease Neutral Disease Disease
R950P Neutral Disease Disease Neutral Neutral Neutral
L956R Disease Disease Disease Disease Disease Disease
F1000S Disease Disease Disease Disease Disease Disease

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