LSDDB

A currative database for lysosomal storage disorder

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Ceroid Lipofuscinosis type 1 disease or batten disease

This disease is also called neuronal Ceroid Lipofuscinosis type 1 disease (CLN1) or batten disease. It is a rare neurodegenerative disorder which is classified under LSDs. It follows an autosomal recessive pattern of inheritance (Verma et al., 2013). It is caused due to the functional deficiency of PPT1 (palmitoyl protein thioesterase 1) enzyme. PPT1 cleaves thioester linked fatty acyl groups in cysteines. This is very important in synaptogenesis, endocytosis and exocytosis of synaptic vescicles and lipid metabolism. Therefore mutations in this PPT1 gene located at 1p34.2 causes the disease (Atiskova et al., 2019).

Reference :
Atiskova, Y. et al. (2019) ‘Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype’, Scientific Reports, 9(1), p. 14185. doi:10.1038/s41598-019-50726-8.
Verma, R. et al. (2013) ‘Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature’, Annals of Indian Academy of Neurology, 16(2), pp. 282–285. doi:10.4103/0972-2327.112500.
Xue, Y. et al. (2011) ‘Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011’, Orphanet Journal of Rare Diseases, 6, p. 20. doi:10.1186/1750-1172-6-20.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
W38C Disease Disease Disease Disease Disease Disease
H39Q Disease Disease Disease Disease Disease Disease
G42E Disease Disease Disease Disease Disease Disease
C45Y Disease Disease Disease Disease Disease Disease
T75P Unclassified Disease Disease Neutral Neutral Neutral
D79G Neutral Disease Disease Disease Disease Disease
G108R Disease Disease Disease Disease Disease Disease
Y109D Disease Disease Disease Disease Disease Disease
R122W Disease Disease Disease Disease Disease Disease
S138L Disease Disease Disease Disease Disease Disease
C152Y Disease Disease Disease Disease Disease Disease
Q177E Disease Disease Disease Disease Disease Disease
V181L Disease Disease Disease Disease Disease Disease
V181M Disease Disease Disease Disease Disease Disease
H187R Neutral Neutral Disease Neutral Neutral Neutral
P189R Disease Disease Disease Disease Disease Disease
L219Q Disease Disease Disease Disease Disease Disease
L222P Disease Disease Disease Disease Disease Disease
V228G Disease Disease Disease Disease Disease Disease
Y247H Disease Disease Disease Disease Disease Disease
G250V Disease Disease Disease Neutral Disease Disease
W296R Neutral Disease Disease Neutral Disease Disease
L305P Disease Disease Disease Disease Disease Disease

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