LSDDB

A currative database for lysosomal storage disorder

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GM1 gangliosidosis

The disease is caused due to the deficient or defective acid β galactosidase. This causes the accumulation of its substrates such as GM1 gangliosides within peripheral tissue and central nervous system. Apart from these tissues, parenchymatous organs also show accumulation of glycoproteins, keratan sulfates and oligosaccharides. The gene encoding the enzyme GLB1 is located at 3p21.33 (Gluszkiewicz et al., 2006).

Reference :
Gravel, R. A., Triggs-Raine, B. L. and Mahuran, D. J. (1991) ‘Biochemistry and Genetics of Tay-Sachs Disease’, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 18(S3), pp. 419–423. doi: 10.1017/S0317167100032583.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
P10L Unclassified Neutral Unclassified Unclassified Neutral Neutral
R49C Disease Disease Disease Neutral Disease Disease
R49H Disease Neutral Disease Neutral Neutral Disease
I51T Unclassified Disease Neutral Disease Disease Disease
R59C Disease Disease Disease Disease Disease Disease
R59H Disease Disease Disease Disease Disease Disease
R68Q Disease Disease Disease Disease Disease Disease
R68W Disease Disease Disease Disease Disease Disease
K73E Disease Disease Disease Disease Disease Disease
T82M Disease Disease Disease Disease Disease Disease
R121S Disease Disease Disease Disease Disease Disease
G123R Disease Disease Disease Disease Disease Disease
M132T Disease Disease Disease Neutral Disease Disease
G134R Disease Disease Disease Disease Disease Disease
G134V Disease Disease Disease Disease Disease Disease
P136S Disease Disease Disease Disease Disease Disease
R148C Disease Disease Disease Neutral Disease Disease
R148S Disease Disease Disease Neutral Disease Disease
D151V Disease Disease Disease Neutral Disease Disease
D151Y Disease Disease Neutral Neutral Disease Disease
L155R Disease Disease Disease Disease Disease Disease
L162S Disease Disease Disease Disease Disease Disease
L173P Disease Disease Disease Neutral Disease Disease
Q184R Disease Disease Disease Disease Disease Disease
G190D Disease Disease Disease Disease Disease Disease
Y199C Disease Disease Disease Disease Disease Disease
R201C Disease Disease Disease Disease Disease Disease
R201H Disease Neutral Disease Neutral Neutral Disease
R208C Disease Disease Disease Neutral Disease Disease
D214Y Disease Disease Disease Disease Disease Disease
V216A Neutral Neutral Neutral Neutral Disease Neutral
L236P Disease Disease Disease Neutral Neutral Disease
T239M Disease Disease Disease Disease Disease Disease
V240M Disease Disease Disease Neutral Disease Disease
Q255H Disease Neutral Neutral Neutral Disease Neutral
G262E Neutral Disease Neutral Neutral Neutral Neutral
P263S Disease Disease Disease Neutral Disease Disease
L264S Neutral Disease Neutral Neutral Neutral Neutral
N266S Neutral Neutral Neutral Neutral Disease Neutral
Y270D Disease Disease Disease Disease Disease Disease
G272D Disease Disease Disease Disease Disease Disease
H281Y Disease Disease Disease Neutral Disease Disease
L297F Neutral Disease Neutral Neutral Neutral Neutral
F314L Disease Disease Disease Disease Disease Disease
Y316C Disease Disease Disease Disease Disease Disease
N318H Disease Disease Disease Disease Disease Disease
T329I Disease Disease Disease Disease Disease Disease
Y331C Disease Disease Disease Disease Disease Disease
D332E Disease Disease Disease Disease Disease Disease
D332N Disease Disease Disease Disease Disease Disease
Y333H Disease Disease Disease Disease Disease Disease
L337P Disease Disease Disease Disease Disease Disease
K346N Disease Disease Disease Disease Disease Disease
Y347C Disease Disease Disease Disease Disease Disease
G414V Disease Disease Disease Disease Disease Disease
T420K Neutral Disease Disease Neutral Disease Disease
T420P Neutral Disease Disease Disease Disease Disease
L422R Disease Disease Disease Disease Disease Disease
G438E Neutral Disease Disease Neutral Disease Neutral
D441N Disease Disease Disease Disease Disease Disease
R442Q Disease Disease Disease Disease Disease Disease
R457Q Disease Disease Disease Neutral Disease Disease
R482H Neutral Disease Disease Neutral Disease Disease
D491N Disease Disease Disease Neutral Disease Disease
D491Y Disease Disease Disease Disease Disease Disease
K493N Disease Disease Disease Disease Disease Disease
G494C Disease Disease Disease Disease Disease Disease
L514P Disease Disease Disease Neutral Neutral Disease
R521C Disease Disease Disease Neutral Disease Disease
P549L Disease Disease Disease Neutral Disease Disease
K578R Disease Disease Disease Neutral Disease Disease
G579D Disease Disease Disease Disease Disease Disease
R590C Disease Disease Disease Disease Disease Disease
R590H Disease Disease Disease Disease Disease Disease
Y591C Disease Disease Disease Disease Disease Disease
Y591N Disease Disease Disease Disease Disease Disease
P597L Disease Disease Disease Disease Disease Disease
P597S Disease Disease Disease Disease Disease Disease
T600I Disease Disease Disease Disease Disease Disease
E632G Unclassified Disease Neutral Neutral Disease Neutral

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