LSDDB

A currative database for lysosomal storage disorder

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Fabry disease

This disease is caused due to deficient activity of α Galactosidase A. The gene for the enzyme is located at Xq22.1. This leads to the deposition of its substrates such as glycosphngolipids GB3 (globotryaosyl ceramide), and galabiosylceramide in within the lysosomes. This occurs in the organs that are usually associated with the disease phenotype such as cardiomyocytes, vascular endothelium, renal and nervous system (San-Román-Monserrat et al., 2016).

Reference :
San-Román-Monserrat, I. et al. (2016) ‘Fabry disease: Prototype of Lysosomal Storage Disorder with systemic involvementComment on “Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype”’, p. 6.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
A20P Unclassified Disease Disease Neutral Neutral Disease
A31V Neutral Disease Disease Neutral Disease Neutral
L32P Disease Disease Disease Neutral Disease Disease
N34S Disease Disease Disease Disease Disease Disease
G35R Disease Disease Disease Disease Disease Disease
P40L Disease Disease Disease Disease Disease Disease
P40S Disease Disease Disease Disease Disease Disease
M42L Disease Disease Disease Neutral Disease Disease
M42V Disease Disease Disease Disease Disease Disease
G43R Disease Disease Disease Disease Disease Disease
H46P Neutral Disease Disease Neutral Disease Disease
H46R Neutral Disease Disease Disease Disease Disease
H46Y Disease Disease Disease Disease Disease Disease
W47G Disease Disease Disease Disease Disease Disease
W47R Disease Disease Disease Disease Disease Disease
R49L Neutral Disease Disease Neutral Disease Disease
R49P Disease Disease Disease Neutral Disease Disease
R49S Neutral Neutral Disease Neutral Disease Neutral
C52R Disease Disease Disease Disease Disease Disease
C52S Disease Disease Disease Neutral Disease Disease
C56F Disease Disease Disease Disease Disease Disease
C56G Disease Disease Disease Disease Disease Disease
C56Y Disease Disease Disease Disease Disease Disease
E59K Neutral Neutral Disease Neutral Disease Neutral
S65T Neutral Neutral Disease Disease Disease Neutral
E66Q Disease Disease Disease Disease Disease Disease
M72V Neutral Neutral Disease Neutral Disease Neutral
G85D Disease Disease Disease Disease Disease Disease
Y86C Disease Disease Disease Disease Disease Disease
L89P Disease Disease Disease Disease Disease Disease
L89R Disease Disease Disease Disease Disease Disease
I91T Disease Disease Disease Disease Disease Disease
D92H Disease Disease Disease Disease Disease Disease
D92Y Disease Disease Disease Disease Disease Disease
D93G Disease Disease Disease Disease Disease Disease
D93N Disease Disease Disease Disease Disease Disease
C94S Disease Disease Disease Disease Disease Disease
C94Y Disease Disease Disease Disease Disease Disease
W95S Disease Disease Disease Disease Disease Disease
A97V Neutral Neutral Disease Neutral Neutral Neutral
R100K Disease Disease Disease Disease Disease Disease
R100T Disease Disease Disease Neutral Disease Disease
R112C Disease Disease Disease Disease Disease Disease
R112H Disease Disease Disease Neutral Disease Disease
R112S Disease Disease Disease Disease Disease Disease
F113L Disease Disease Disease Disease Disease Disease
F113S Disease Disease Disease Disease Disease Disease
L120V Neutral Disease Disease Neutral Disease Neutral
G128E Disease Disease Disease Disease Disease Disease
L131P Disease Disease Disease Disease Disease Disease
Y134S Disease Disease Disease Disease Disease Disease
A135V Neutral Neutral Disease Neutral Disease Neutral
G138R Disease Disease Disease Disease Disease Disease
C142R Disease Disease Disease Disease Disease Disease
C142Y Disease Disease Disease Disease Disease Disease
A143P Disease Disease Disease Disease Disease Disease
A143T Disease Disease Disease Disease Disease Disease
G144V Disease Disease Disease Neutral Disease Disease
P146S Disease Disease Disease Neutral Disease Disease
S148N Disease Disease Disease Neutral Disease Disease
S148R Disease Disease Disease Neutral Disease Disease
A156T Disease Disease Disease Disease Disease Disease
A156V Disease Disease Disease Disease Disease Disease
W162C Disease Disease Disease Disease Disease Disease
W162R Disease Disease Disease Disease Disease Disease
G163V Disease Disease Disease Disease Disease Disease
D165V Disease Disease Disease Disease Disease Disease
L166V Disease Disease Disease Disease Disease Disease
D170V Disease Disease Disease Disease Disease Disease
G171D Disease Disease Disease Neutral Disease Disease
C172R Disease Disease Disease Disease Disease Disease
C172Y Disease Disease Disease Disease Disease Disease
G183D Neutral Disease Disease Neutral Disease Disease
M187V Neutral Disease Disease Neutral Disease Disease
S201F Disease Disease Disease Disease Disease Disease
C202W Disease Disease Disease Disease Disease Disease
C202Y Disease Disease Disease Disease Disease Disease
P205T Disease Disease Disease Disease Disease Disease
N215S Neutral Neutral Disease Neutral Disease Neutral
Y216D Disease Disease Disease Neutral Disease Disease
I219N Disease Disease Disease Neutral Disease Disease
I219T Disease Disease Disease Neutral Disease Disease
C223G Neutral Neutral Disease Neutral Disease Neutral
N224D Disease Disease Disease Neutral Disease Disease
N224S Disease Disease Disease Neutral Disease Disease
W226R Disease Disease Disease Disease Disease Disease
R227Q Disease Disease Disease Disease Disease Disease
A230T Neutral Neutral Disease Neutral Disease Neutral
D231N Disease Disease Disease Disease Disease Disease
D234E Disease Disease Disease Neutral Disease Disease
S235C Disease Disease Disease Neutral Disease Disease
W236C Disease Disease Disease Disease Disease Disease
W236L Disease Disease Disease Neutral Disease Disease
I242N Disease Disease Disease Neutral Disease Disease
D244H Disease Disease Disease Neutral Disease Disease
D244N Disease Neutral Disease Neutral Neutral Neutral
G258R Neutral Disease Disease Neutral Disease Disease
P259L Disease Disease Disease Neutral Disease Disease
P259R Disease Disease Disease Neutral Disease Disease
G260A Disease Disease Disease Disease Disease Disease
G261D Disease Disease Disease Neutral Disease Disease
N263S Disease Disease Disease Disease Disease Disease
D264V Disease Disease Disease Disease Disease Disease
D264Y Disease Disease Disease Disease Disease Disease
P265R Disease Disease Disease Disease Disease Disease
D266H Disease Disease Disease Disease Disease Disease
D266N Disease Disease Disease Disease Disease Disease
D266V Disease Disease Disease Disease Disease Disease
M267I Disease Disease Disease Disease Disease Disease
V269A Disease Disease Disease Neutral Disease Disease
N272K Neutral Disease Disease Disease Disease Disease
N272S Disease Disease Disease Disease Disease Disease
S276G Disease Disease Disease Disease Disease Disease
Q279E Neutral Neutral Disease Neutral Disease Neutral
Q279H Disease Disease Disease Disease Disease Disease
Q280H Disease Disease Disease Neutral Disease Disease
M284T Disease Disease Disease Disease Disease Disease
A285P Disease Disease Disease Disease Disease Disease
W287C Disease Disease Disease Disease Disease Disease
W287G Disease Disease Disease Disease Disease Disease
A288D Disease Disease Disease Disease Disease Disease
I289F Disease Disease Disease Disease Disease Disease
M296I Neutral Neutral Disease Neutral Neutral Neutral
M296V Neutral Disease Disease Neutral Disease Disease
S297F Disease Disease Disease Disease Disease Disease
N298H Disease Disease Disease Neutral Disease Disease
N298K Disease Disease Disease Neutral Disease Disease
N298S Neutral Neutral Disease Neutral Disease Neutral
L300F Disease Disease Disease Disease Disease Disease
R301Q Disease Disease Disease Neutral Disease Disease
D313Y Disease Disease Disease Disease Disease Disease
V316E Disease Disease Disease Disease Disease Disease
N320K Disease Disease Disease Disease Disease Disease
N320Y Disease Disease Disease Disease Disease Disease
Q321E Disease Disease Disease Disease Disease Disease
Q327K Neutral Disease Disease Neutral Disease Disease
G328A Neutral Neutral Disease Neutral Neutral Neutral
G328R Disease Disease Disease Disease Disease Disease
G328V Disease Disease Disease Neutral Disease Disease
E338K Neutral Disease Disease Neutral Disease Disease
W340R Disease Disease Disease Neutral Disease Disease
E341K Neutral Neutral Disease Neutral Disease Neutral
R342Q Disease Disease Disease Neutral Disease Disease
R356Q Disease Disease Disease Neutral Disease Disease
R356W Disease Disease Disease Neutral Disease Disease
E358A Neutral Neutral Disease Neutral Disease Neutral
E358K Neutral Disease Disease Neutral Disease Disease
G360C Disease Disease Disease Neutral Disease Disease
G361R Neutral Disease Disease Neutral Neutral Neutral
R363H Disease Neutral Disease Neutral Neutral Disease
G373D Unclassified Disease Disease Neutral Disease Disease
G373S Unclassified Disease Disease Neutral Disease Disease
A377D Disease Disease Disease Neutral Disease Disease
C378Y Neutral Disease Disease Neutral Disease Neutral
P409A Neutral Disease Disease Disease Disease Disease
P409T Neutral Disease Disease Disease Disease Disease
T410A Neutral Neutral Disease Neutral Disease Neutral
L414S Neutral Disease Disease Disease Disease Neutral

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