LSDDB

A currative database for lysosomal storage disorder

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Ceroid Lipofuscinosis type 6 disease

It is unclear how CLN6 is involved in the pathology of lysosomes. However, CLN6 is involved in endocytosis of proteins within lysosomes, the acidification of lysosomes and autophagy. It is noteworthy that CLN6 resides in endoplasmic reticulum. Both, the infantile and adult onset forms of the disease have been reported (Oresic, Mueller and Tortorella, 2009; Mole and Cotman, 2015). Gene CLN6 which encodes this protein is located at 15q23.

Reference :
Mole, S.E. and Cotman, S.L. (2015) ‘Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease)’, Biochimica et biophysica acta, 1852(10 0 0), pp. 2237–2241. doi:10.1016/j.bbadis.2015.05.011.
Oresic, K., Mueller, B. And Tortorella, D. (2009) ‘Cln6 Mutants Associated With Neuronal Ceroid Lipofuscinosis Are Degraded In A Proteasome Dependent Manner’, Bioscience reports, 29(3), pp. 173–181. doi:10.1042/bsr20080143.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
A12T Neutral Neutral Disease Disease Disease Neutral
G17S Neutral Neutral Neutral Unclassified Neutral Neutral
R62H Disease Disease Disease Disease Disease Disease
E72Q Neutral Neutral Disease Neutral Disease Neutral
N90K Neutral Disease Disease Neutral Disease Disease
S104F Disease Neutral Disease Disease Disease Disease
G123D Disease Disease Disease Disease Disease Disease
R149C Disease Disease Disease Disease Disease Disease
P159L Disease Disease Disease Disease Disease Disease
L169P Disease Disease Disease Disease Disease Disease
F186S Disease Disease Disease Disease Disease Disease
Y221C Disease Disease Disease Neutral Disease Disease
Y221S Disease Disease Disease Neutral Disease Disease
F234L Neutral Disease Disease Disease Disease Disease
M241T Neutral Disease Disease Disease Disease Disease
R252H Neutral Neutral Disease Neutral Disease Neutral
G259S Neutral Disease Disease Disease Disease Disease
P297T Disease Disease Disease Disease Disease Disease
P299L Disease Disease Disease Disease Disease Disease
W300R Disease Disease Disease Neutral Disease Disease

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