LSDDB

A currative database for lysosomal storage disorder

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Pompe disease

This is also known as acid maltase deficiency or glycogen storage disease type 2. It is caused due to the defective activity of acid α glucosidase enzyme (GAA). This enzyme is cleaves α1-4 glycosidic bonds and α1-6 glycosidic bonds from glycogen to glucose. The defective enzyme causes accumulation of its substrate ie., glycogen in the lysosomes. The disease presents in 2 forms, severe infantile onset and mild slowly progressive adult phenotype. The gene encoding the disease GAA is located at chromosome 17q25 (Lim, Li and Raben, 2014).

Reference :
Lim, J.-A., Li, L. and Raben, N. (2014) ‘Pompe disease: from pathophysiology to therapy and back again’, Frontiers in Aging Neuroscience, 6, p. 177. doi: 10.3389/fnagi.2014.00177.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
S46P Unclassified Neutral Disease Disease Disease Neutral
R74H Unclassified Neutral Disease Neutral Neutral Neutral
R89H Unclassified Disease Disease Neutral Neutral Neutral
D91N Unclassified Neutral Disease Neutral Disease Neutral
C103G Unclassified Disease Disease Neutral Disease Disease
C103R Unclassified Disease Disease Neutral Disease Disease
C108G Unclassified Disease Disease Disease Disease Disease
C127F Unclassified Disease Disease Neutral Disease Disease
R190H Unclassified Disease Disease Disease Disease Disease
Y191C Unclassified Disease Disease Disease Disease Disease
L208P Disease Disease Disease Neutral Disease Disease
P217L Disease Disease Disease Disease Disease Disease
G219R Disease Disease Disease Neutral Disease Disease
V220L Neutral Neutral Disease Neutral Neutral Neutral
V222M Disease Disease Disease Disease Disease Disease
R224P Disease Disease Disease Disease Disease Disease
R224Q Disease Disease Disease Disease Disease Disease
R224W Disease Disease Disease Disease Disease Disease
T234K Neutral Disease Disease Neutral Neutral Disease
T234R Neutral Disease Disease Disease Disease Disease
A237V Neutral Neutral Disease Neutral Disease Neutral
S251L Neutral Neutral Disease Neutral Neutral Neutral
S254L Disease Disease Disease Neutral Neutral Disease
E262K Neutral Disease Disease Neutral Disease Disease
P266S Neutral Neutral Disease Neutral Neutral Neutral
T271A Neutral Neutral Disease Neutral Neutral Neutral
P285R Disease Disease Disease Neutral Disease Disease
P285S Disease Neutral Disease Neutral Neutral Disease
N290D Neutral Neutral Disease Neutral Neutral Neutral
L291F Neutral Disease Disease Disease Disease Disease
L291P Disease Disease Disease Disease Disease Disease
Y292C Disease Disease Disease Disease Disease Disease
G293R Disease Disease Disease Disease Disease Disease
L299R Disease Disease Disease Disease Disease Disease
H308L Neutral Disease Disease Neutral Disease Disease
H308P Disease Disease Disease Neutral Disease Disease
G309R Disease Disease Disease Disease Disease Disease
V310G Disease Disease Disease Disease Disease Disease
L312R Disease Disease Disease Disease Disease Disease
N316I Disease Disease Disease Neutral Neutral Disease
M318K Disease Disease Disease Neutral Disease Disease
M318T Disease Disease Disease Neutral Disease Disease
P324L Disease Neutral Disease Neutral Disease Disease
W330G Disease Disease Disease Disease Disease Disease
G335E Disease Disease Disease Disease Disease Disease
G335R Disease Disease Disease Disease Disease Disease
P347R Disease Disease Disease Disease Disease Disease
L355P Disease Disease Disease Neutral Disease Disease
G359R Disease Disease Disease Disease Disease Disease
P361L Disease Disease Disease Disease Disease Disease
C374R Disease Disease Disease Disease Disease Disease
R375L Disease Disease Disease Disease Disease Disease
G377R Disease Disease Disease Disease Disease Disease
M391V Neutral Disease Disease Neutral Neutral Neutral
P397L Disease Disease Disease Disease Disease Disease
Q401R Disease Disease Disease Neutral Disease Disease
W402R Disease Disease Disease Disease Disease Disease
D404N Disease Disease Disease Disease Disease Disease
L405P Disease Disease Disease Disease Disease Disease
M408V Disease Disease Disease Disease Disease Disease
D419V Disease Neutral Disease Neutral Neutral Disease
R437C Disease Disease Disease Disease Disease Disease
R437H Disease Neutral Disease Neutral Neutral Disease
A445P Disease Disease Disease Disease Disease Disease
Y455F Neutral Neutral Disease Neutral Disease Neutral
P457H Disease Neutral Disease Neutral Disease Neutral
P457L Disease Neutral Disease Neutral Neutral Neutral
Y458C Disease Disease Disease Disease Disease Disease
G478R Disease Disease Disease Disease Disease Disease
W481R Disease Disease Disease Disease Disease Disease
P482R Disease Disease Disease Disease Disease Disease
G483V Disease Disease Disease Disease Disease Disease
A486P Disease Disease Disease Neutral Neutral Disease
D489N Disease Disease Disease Disease Disease Disease
M519T Disease Disease Disease Disease Disease Disease
M519V Disease Disease Disease Disease Disease Disease
E521K Disease Disease Disease Disease Disease Disease
E521Q Disease Disease Disease Disease Disease Disease
P522A Neutral Disease Disease Neutral Disease Disease
P522S Neutral Disease Disease Disease Disease Disease
S523Y Disease Disease Disease Disease Disease Disease
F525Y Disease Disease Disease Disease Disease Disease
S529V Disease Neutral Disease Neutral Neutral Disease
P545L Unclassified Disease Disease Disease Disease Disease
G549R Unclassified Disease Disease Neutral Disease Disease
L552P Unclassified Disease Disease Disease Disease Disease
I557F Neutral Disease Disease Neutral Neutral Neutral
C558S Disease Neutral Disease Neutral Neutral Disease
S566P Disease Disease Disease Neutral Disease Disease
H568L Neutral Disease Disease Disease Disease Disease
N570K Neutral Neutral Disease Neutral Neutral Neutral
H572Q Disease Disease Disease Disease Disease Disease
Y575C Disease Disease Disease Disease Disease Disease
Y575S Disease Disease Disease Disease Disease Disease
G576A Disease Neutral Disease Neutral Disease Disease
G576R Disease Disease Disease Disease Disease Disease
G576S Disease Disease Disease Disease Disease Disease
E579K Neutral Disease Disease Neutral Disease Disease
R585K Neutral Neutral Disease Neutral Neutral Neutral
R585M Disease Neutral Disease Disease Disease Disease
R594H Disease Disease Disease Disease Disease Disease
R594P Disease Disease Disease Neutral Disease Disease
S599Y Disease Disease Disease Disease Disease Disease
R600C Disease Disease Disease Disease Disease Disease
R600H Disease Disease Disease Disease Disease Disease
S601L Disease Disease Disease Disease Disease Disease
T602A Disease Neutral Disease Neutral Neutral Neutral
G607D Disease Disease Disease Disease Disease Disease
A610V Neutral Neutral Disease Neutral Disease Neutral
G611D Disease Disease Disease Disease Disease Disease
H612Q Disease Neutral Disease Neutral Disease Disease
H612Y Disease Disease Disease Neutral Disease Disease
T614K Neutral Neutral Disease Neutral Disease Disease
G615R Disease Disease Disease Disease Disease Disease
S619R Neutral Disease Disease Disease Disease Disease
S627P Disease Disease Disease Disease Disease Disease
P629L Disease Neutral Disease Disease Disease Disease
N635K Neutral Disease Disease Disease Disease Disease
G638V Disease Disease Disease Disease Disease Disease
G638W Disease Disease Disease Disease Disease Disease
L641V Neutral Neutral Disease Disease Disease Neutral
G643R Disease Disease Disease Disease Disease Disease
D645E Neutral Disease Disease Disease Disease Disease
D645H Disease Disease Disease Disease Disease Disease
D645N Neutral Disease Disease Disease Disease Disease
C647W Disease Disease Disease Disease Disease Disease
G648D Disease Disease Disease Disease Disease Disease
G648S Disease Disease Disease Disease Disease Disease
R660H Disease Disease Disease Disease Disease Disease
R672Q Disease Disease Disease Neutral Disease Disease
R672T Disease Disease Disease Neutral Disease Disease
R672W Disease Disease Disease Neutral Disease Disease
E689K Neutral Disease Disease Neutral Neutral Neutral
R702C Disease Disease Disease Disease Disease Disease
R702L Disease Disease Disease Disease Disease Disease
L705P Disease Disease Disease Disease Disease Disease
T711R Disease Disease Disease Disease Disease Disease
V718I Neutral Neutral Disease Neutral Neutral Neutral
R725W Disease Disease Disease Disease Disease Disease
T737N Neutral Disease Disease Disease Disease Disease
Q743K Neutral Disease Disease Disease Disease Disease
W746C Disease Disease Disease Disease Disease Disease
W746G Disease Neutral Disease Disease Disease Disease
W746S Disease Neutral Disease Disease Disease Disease
Y766C Disease Disease Disease Disease Disease Disease
P768R Disease Disease Disease Disease Disease Disease
V816I Neutral Neutral Disease Neutral Neutral Neutral
R819P Disease Disease Disease Disease Disease Disease
A880D Disease Disease Disease Neutral Disease Disease
L901Q Disease Disease Disease Neutral Neutral Disease
P913R Disease Disease Disease Neutral Disease Disease
V916F Neutral Disease Disease Neutral Neutral Disease
T927I Neutral Neutral Disease Neutral Disease Neutral
L935P Disease Disease Disease Neutral Neutral Disease
V949D Unclassified Disease Disease Neutral Disease Disease

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