LSDDB

A currative database for lysosomal storage disorder

Home Classifications SNPs References Help About

Mucopolysaccharidoses Ⅲb

This type of MPS is classified as MPS Ⅲb also known as Sanfilippo type B. The disease is caused due to the accumulation of heparan sulfate within lysosomes due to the defect in N-Acetyl-alpha-glucosaminidase. The disease follows the autosomal recessive pattern of inheritance for the gene NAGLUat 17q21. Clinical manifestations for MPS Ⅲb ranges from mild to severe and shorten life span of affected individuals (Bunge et al., 1999; Chinen et al., 2005).

Reference :
Bunge, S. et al. (1999) ‘Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations’, Journal of Medical Genetics, 36(1), pp. 28–32. doi: 10.1136/jmg.36.1.28.
Chinen, Y. et al. (2005) ‘Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α- N -acetylglucosaminidase gene from the Okinawa islands in Japan’, Journal of Human Genetics, 50(7), pp. 357–359. doi: 10.1007/s10038-005-0258-4.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
L35F Neutral Neutral Neutral Neutral Disease Neutral
R38W Disease Disease Disease Disease Disease Disease
F48C Disease Disease Neutral Neutral Disease Disease
F48L Neutral Disease Neutral Neutral Disease Neutral
G69S Neutral Neutral Neutral Neutral Neutral Neutral
V77G Disease Disease Disease Disease Disease Disease
G79C Disease Disease Disease Disease Disease Disease
G79S Disease Disease Disease Disease Disease Disease
G82D Neutral Disease Neutral Neutral Disease Neutral
Y92H Disease Disease Disease Disease Disease Disease
H100R Neutral Disease Neutral Neutral Disease Disease
P115S Disease Neutral Neutral Disease Disease Neutral
R130C Disease Disease Disease Disease Disease Disease
Y140C Disease Disease Disease Disease Disease Disease
E153K Neutral Disease Disease Disease Disease Disease
I154R Disease Disease Disease Disease Disease Disease
W156C Disease Disease Disease Disease Disease Disease
H227P Neutral Disease Disease Disease Disease Disease
R234C Disease Disease Disease Disease Disease Disease
V241M Disease Neutral Disease Disease Disease Disease
L242P Disease Disease Disease Disease Disease Disease
P243L Disease Disease Disease Disease Disease Disease
A246P Disease Disease Disease Neutral Disease Disease
H248R Disease Neutral Disease Neutral Disease Neutral
W268R Disease Disease Disease Disease Disease Disease
C277F Disease Disease Disease Neutral Disease Disease
L280P Disease Disease Disease Disease Disease Disease
G292R Disease Disease Disease Disease Disease Disease
Y309C Disease Disease Disease Disease Disease Disease
F314L Disease Neutral Disease Neutral Disease Disease
V334F Disease Disease Disease Disease Disease Disease
Y335C Disease Disease Disease Disease Disease Disease
P358L Neutral Neutral Neutral Neutral Disease Neutral
F410S Disease Disease Disease Disease Disease Disease
G412E Disease Disease Disease Disease Disease Disease
H414R Neutral Neutral Neutral Neutral Disease Neutral
T437I Disease Neutral Neutral Neutral Disease Disease
E446K Disease Disease Disease Disease Disease Disease
E452K Neutral Neutral Neutral Neutral Disease Neutral
Y455C Disease Disease Disease Disease Disease Disease
W474G Disease Disease Disease Disease Disease Disease
R482Q Disease Disease Disease Disease Disease Disease
R482W Disease Disease Disease Disease Disease Disease
V501G Disease Disease Disease Disease Disease Disease
P516L Neutral Neutral Neutral Neutral Neutral Neutral
R520W Disease Disease Disease Disease Disease Disease
P521L Disease Disease Disease Neutral Disease Disease
S534Y Disease Disease Disease Disease Neutral Neutral
L560P Disease Disease Disease Disease Disease Disease
L561R Disease Disease Disease Disease Disease Disease
R565P Disease Disease Disease Disease Disease Disease
R565Q Disease Disease Disease Disease Disease Disease
R565W Disease Disease Disease Disease Disease Disease
L591P Disease Disease Disease Neutral Disease Disease
S612G Disease Neutral Neutral Neutral Neutral Neutral
L617F Disease Neutral Neutral Neutral Disease Disease
R643C Disease Disease Disease Disease Disease Disease
R643H Disease Disease Disease Disease Disease Disease
W649C Disease Disease Disease Disease Disease Disease
G650E Disease Disease Disease Disease Disease Disease
Y658F Disease Disease Disease Disease Disease Disease
A664V Disease Neutral Disease Disease Disease Disease
R674C Disease Disease Disease Disease Disease Disease
R674H Disease Disease Disease Disease Disease Disease
R676P Disease Disease Disease Neutral Disease Disease
L682R Disease Disease Disease Neutral Disease Disease
E705K Disease Disease Disease Neutral Disease Disease

Download data