LSDDB

A currative database for lysosomal storage disorder

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Mucopolysaccharidoses Ⅲc

This type is also called Sanfilippo type C, caused due to defect in α-Glucosaminide N-Acetyltransferase deficiency. This disorder causes the accumulation of heparan sulfate within lysosomes due to defective α-Glucosaminide N-Acetyltransferase (HGSNAT) enzyme. The gene HGSNAT is located at 8p11.2-p11.1.

Reference :
Fan, X. et al. (2006) ‘Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)’, The American Journal of Human Genetics, 79(4), pp. 738–744. doi: 10.1086/508068.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
A82V Unclassified Disease Neutral Disease Disease Disease
C104F Unclassified Disease Disease Disease Disease Disease
L141P Unclassified Disease Neutral Disease Disease Disease
L165P Unclassified Disease Disease Neutral Disease Disease
I280R Unclassified Disease Disease Disease Disease Disease
G290R Unclassified Disease Disease Disease Disease Disease
N301K Unclassified Disease Disease Disease Disease Disease
P311L Unclassified Disease Disease Disease Disease Disease
R372C Unclassified Disease Disease Disease Disease Disease
R372H Unclassified Disease Disease Disease Disease Disease
W431C Unclassified Disease Neutral Disease Disease Disease
G452S Unclassified Disease Neutral Disease Disease Disease
G452V Unclassified Disease Neutral Neutral Disease Disease
L473P Unclassified Disease Neutral Neutral Neutral Disease
E499K Unclassified Disease Disease Disease Disease Disease
M510K Unclassified Disease Neutral Neutral Disease Disease
G514E Unclassified Disease Disease Disease Disease Disease
A517E Unclassified Disease Disease Neutral Disease Disease
S546F Unclassified Neutral Neutral Neutral Neutral Neutral
S567C Unclassified Disease Neutral Disease Disease Disease
S569L Unclassified Disease Neutral Disease Disease Disease
D590V Unclassified Disease Disease Disease Disease Disease
P599L Unclassified Disease Neutral Neutral Disease Disease
A643T Unclassified Neutral Neutral Neutral Neutral Neutral

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