LSDDB

A currative database for lysosomal storage disorder

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Cystinosis

The disease is caused due to defect in cystin transporter of the lysosomal membrane cystinosin. This defect causes deposition of cystine crystals in liver and spleen. Three forms of the disease have been reported. Infantile cystinosis is nephropathic and is the most common form of the disease. Juvenile cystinosis is neuropathic and non-nephropatic cystinosis. The gene responsible for the defective transport protein is CTNS gene located at 17p13 (Bäumner and Weber, 2018).

Reference :
Bäumner, S. and Weber, L. T. (2018) ‘Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease’, Frontiers in Pediatrics, 6, p. 58. doi: 10.3389/fped.2018.00058.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
G110V Neutral Neutral Disease Neutral Neutral Neutral
I133F Disease Disease Disease Disease Disease Disease
S139F Disease Disease Disease Disease Disease Disease
R151G Disease Disease Disease Disease Disease Disease
G157D Disease Disease Disease Disease Disease Disease
L158P Disease Disease Disease Disease Disease Disease
G169D Disease Disease Disease Disease Disease Disease
Y173C Disease Disease Disease Disease Disease Disease
N177S Disease Disease Disease Neutral Disease Disease
N177T Disease Disease Disease Neutral Disease Disease
W182R Disease Disease Disease Disease Disease Disease
G197R Disease Disease Disease Neutral Disease Disease
P200L Disease Disease Disease Disease Disease Disease
D205N Disease Disease Disease Disease Disease Disease
Q222R Disease Disease Disease Disease Disease Disease
K280R Disease Disease Disease Disease Disease Disease
M287I Neutral Disease Disease Disease Disease Disease
N288K Disease Disease Disease Disease Disease Disease
S298N Disease Disease Disease Neutral Disease Disease
D305G Disease Disease Disease Disease Disease Disease
D305Y Disease Disease Disease Disease Disease Disease
G308R Disease Disease Disease Disease Disease Disease
G308V Disease Disease Disease Disease Disease Disease
G309D Disease Disease Disease Disease Disease Disease
N323K Neutral Neutral Disease Neutral Disease Neutral
G337R Disease Disease Disease Disease Disease Disease
L338P Disease Disease Disease Disease Disease Disease
L338R Disease Disease Disease Disease Disease Disease
G339R Disease Disease Disease Disease Disease Disease
D346N Neutral Disease Disease Neutral Disease Disease

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