LSDDB

A currative database for lysosomal storage disorder

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GM2 gangliosidosis

This disesae is also called Tay Sachs disease - A variant. It is caused due to the defective α subunit of Hexosaminidase (HEXA). The loss of enzyme activity causes accumulation of GM2 gangliosides in the lysosomes thereby affecting many organs especially nervous system. The disease is characterized into juvenile form which is lethal and a late onset disease which is variable in severity. The gene encoding the enzyme HEXA is located at 15q23 (Gravel, Triggs-Raine and Mahuran, 1991; Leal et al., 2020).

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.
Leal, A. F. et al. (2020) ‘GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies’, International Journal of Molecular Sciences, 21(17), p. 6213. doi: 10.3390/ijms21176213.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
P25S Unclassified Disease Neutral Neutral Disease Disease
L39R Unclassified Disease Disease Neutral Disease Disease
L127F Disease Disease Disease Disease Disease Disease
L127R Disease Disease Disease Disease Disease Disease
R166G Disease Disease Disease Disease Disease Disease
R170Q Disease Disease Disease Disease Disease Disease
R170W Disease Disease Disease Disease Disease Disease
R178C Disease Disease Disease Disease Disease Disease
R178H Disease Disease Disease Disease Disease Disease
R178L Disease Disease Disease Disease Disease Disease
Y180H Disease Disease Disease Disease Disease Disease
V192L Neutral Neutral Neutral Neutral Neutral Neutral
N196S Neutral Neutral Neutral Neutral Disease Neutral
K197T Disease Disease Disease Disease Disease Disease
V200M Disease Disease Disease Disease Disease Disease
H204R Disease Disease Disease Disease Disease Disease
S210F Disease Disease Disease Disease Disease Disease
F211S Disease Disease Disease Disease Disease Disease
S226F Disease Disease Disease Neutral Neutral Disease
G250D Disease Disease Disease Disease Disease Disease
G250S Disease Disease Disease Disease Disease Disease
R252H Disease Disease Disease Disease Disease Disease
R252L Disease Disease Disease Disease Disease Disease
D258H Disease Disease Disease Disease Disease Disease
G269D Disease Disease Disease Neutral Disease Disease
G269S Neutral Neutral Neutral Neutral Neutral Neutral
S279P Neutral Disease Neutral Neutral Neutral Neutral
N295S Disease Neutral Disease Neutral Neutral Disease
M301R Disease Disease Disease Disease Disease Disease
D314V Disease Disease Disease Disease Disease Disease
I335F Disease Disease Disease Disease Disease Disease
V391M Disease Neutral Disease Neutral Disease Disease
W420C Disease Disease Disease Neutral Disease Disease
G454S Disease Disease Disease Disease Disease Disease
G455R Disease Disease Disease Disease Disease Disease
C458Y Disease Disease Disease Disease Disease Disease
W474C Disease Disease Disease Disease Disease Disease
E482K Disease Disease Disease Disease Disease Disease
L484Q Disease Disease Disease Disease Disease Disease
W485R Disease Disease Disease Disease Disease Disease
R499C Disease Disease Disease Disease Disease Disease
R499H Disease Disease Disease Disease Disease Disease
R504C Disease Disease Disease Disease Disease Disease
R504H Disease Disease Disease Disease Disease Disease

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