LSDDB

A currative database for lysosomal storage disorder

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Niemann-Pick Type C

The disease caused due to the mutations in NPC1 and NPC2 genes. Both of them do not encode lysosomal enzyme, instead they code for a transporter proteins. NPC1 encodes a late endosome/lysosomal transporter protein, NPC1 encodes a soluble protein. Loss of activity of either of these proteins leads to the accumulation of cholesterol and sphingolipids the lysosomes. The genes encoding NPC1 and NPC2 are located at 18q11-12 and 14q24.3 respectively (Evans and Hendriksz, 2017).

Reference :
Evans, W. R. H. and Hendriksz, C. J. (2017) ‘Niemann–Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment’, BJPsych Bulletin, 41(2), pp. 109–114. doi: 10.1192/pb.bp.116.054072.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
C63R Disease Disease Disease Neutral Disease Disease
C74Y Disease Disease Disease Disease Disease Disease
Q92R Neutral Neutral Disease Neutral Disease Neutral
C113R Disease Disease Disease Disease Disease Disease
T137M Neutral Neutral Disease Neutral Neutral Neutral
P166S Neutral Neutral Disease Neutral Neutral Neutral
C177G Neutral Neutral Disease Neutral Disease Neutral
C177Y Disease Disease Disease Neutral Disease Disease
N222S Neutral Neutral Disease Neutral Neutral Neutral
V231G Disease Neutral Disease Neutral Neutral Neutral
P237S Neutral Neutral Neutral Neutral Neutral Neutral
D242H Disease Disease Disease Neutral Disease Disease
D242N Disease Disease Disease Neutral Disease Disease
C247Y Disease Disease Disease Neutral Disease Disease
G248V Disease Neutral Disease Neutral Disease Neutral
M272R Neutral Disease Disease Disease Disease Disease
W273S Neutral Disease Disease Neutral Disease Disease
R372W Unclassified Disease Disease Disease Disease Disease
V378A Disease Disease Disease Neutral Disease Disease
L380F Disease Disease Disease Disease Disease Disease
A388P Disease Disease Disease Disease Disease Disease
R389C Disease Disease Disease Neutral Disease Disease
P401T Disease Disease Disease Disease Disease Disease
R404P Disease Disease Disease Disease Disease Disease
R404Q Disease Disease Disease Disease Disease Disease
R404W Disease Disease Disease Disease Disease Disease
P433L Neutral Disease Disease Neutral Disease Neutral
P434L Neutral Neutral Disease Neutral Neutral Neutral
E451K Neutral Neutral Disease Neutral Neutral Neutral
S473P Disease Disease Disease Neutral Neutral Disease
P474L Disease Disease Disease Neutral Disease Disease
C479Y Disease Disease Disease Neutral Disease Disease
Y509S Neutral Disease Disease Neutral Disease Disease
H510P Neutral Disease Disease Neutral Disease Disease
H512R Neutral Disease Disease Neutral Disease Disease
R518Q Neutral Neutral Disease Neutral Disease Neutral
R518W Disease Disease Disease Disease Disease Disease
A521S Neutral Neutral Disease Neutral Disease Neutral
F537L Neutral Disease Disease Neutral Disease Disease
P543L Disease Disease Disease Neutral Disease Disease
T574K Neutral Disease Disease Neutral Disease Neutral
K576R Neutral Neutral Neutral Neutral Disease Neutral
A605V Disease Neutral Disease Disease Disease Disease
E612D Disease Disease Disease Disease Disease Disease
R615C Disease Disease Disease Disease Disease Disease
R615L Disease Disease Disease Disease Disease Disease
M631R Disease Disease Disease Neutral Disease Disease
G640R Disease Disease Disease Neutral Disease Disease
S652W Disease Disease Disease Disease Disease Disease
G660S Neutral Disease Disease Disease Disease Disease
V664M Disease Disease Disease Disease Disease Disease
S666N Disease Neutral Disease Disease Disease Disease
C670W Disease Disease Disease Disease Disease Disease
G673V Disease Disease Disease Disease Disease Disease
L684F Disease Disease Disease Disease Disease Disease
P691L Disease Disease Disease Disease Disease Disease
L695V Disease Disease Disease Disease Disease Disease
D700N Neutral Disease Disease Disease Disease Disease
F703S Disease Disease Disease Disease Disease Disease
L724P Disease Disease Disease Disease Disease Disease
V727F Disease Disease Disease Disease Disease Disease
S734I Disease Disease Disease Disease Disease Disease
E742K Disease Disease Disease Neutral Disease Disease
A745E Disease Disease Disease Disease Disease Disease
M754K Disease Disease Disease Disease Disease Disease
F763L Disease Disease Disease Disease Disease Disease
A767V Disease Disease Disease Disease Disease Disease
Q775P Disease Disease Disease Disease Disease Disease
R789C Disease Disease Disease Disease Disease Disease
R789G Disease Disease Disease Disease Disease Disease
Y825C Disease Disease Disease Disease Disease Disease
S849I Disease Disease Disease Neutral Neutral Disease
Q862L Disease Disease Disease Disease Disease Disease
S865L Disease Neutral Disease Disease Disease Disease
Y871C Disease Disease Disease Disease Disease Disease
D874V Disease Disease Disease Neutral Disease Disease
P888S Disease Disease Disease Disease Disease Disease
V889M Disease Disease Disease Disease Disease Disease
Y890C Disease Disease Disease Disease Disease Disease
Y899D Disease Disease Disease Neutral Disease Disease
G910S Neutral Neutral Disease Neutral Neutral Neutral
D917Y Disease Disease Disease Neutral Disease Disease
A926T Disease Neutral Disease Neutral Disease Neutral
A927V Neutral Neutral Disease Neutral Disease Neutral
Q928P Disease Disease Disease Neutral Neutral Disease
L929P Disease Disease Disease Neutral Disease Disease
R934Q Neutral Neutral Disease Neutral Disease Neutral
S940L Disease Disease Disease Neutral Disease Disease
W942C Disease Disease Disease Disease Disease Disease
I943M Disease Disease Disease Neutral Neutral Disease
D944N Disease Disease Disease Disease Disease Disease
D945N Disease Disease Disease Disease Disease Disease
D948H Disease Disease Disease Neutral Disease Disease
D948N Disease Disease Disease Neutral Disease Neutral
D948Y Disease Disease Disease Neutral Neutral Disease
V950M Neutral Neutral Disease Neutral Neutral Neutral
S954L Disease Disease Disease Neutral Neutral Disease
C956Y Disease Disease Disease Disease Disease Disease
R958L Disease Disease Disease Neutral Disease Disease
R958Q Disease Disease Disease Neutral Neutral Disease
V959E Disease Neutral Disease Neutral Neutral Neutral
N961S Neutral Neutral Disease Neutral Neutral Neutral
N968S Neutral Neutral Disease Neutral Neutral Neutral
C976R Disease Disease Disease Neutral Disease Disease
R978C Disease Disease Disease Neutral Disease Disease
G986S Neutral Neutral Disease Neutral Neutral Neutral
G992A Neutral Neutral Disease Neutral Neutral Neutral
G992R Neutral Disease Disease Neutral Disease Disease
G992W Disease Disease Disease Disease Disease Disease
M996R Neutral Disease Disease Neutral Disease Neutral
S1004L Disease Neutral Disease Neutral Disease Disease
P1007A Disease Neutral Disease Neutral Disease Disease
G1012D Disease Disease Disease Disease Disease Disease
G1015V Disease Disease Disease Disease Disease Disease
H1016R Neutral Neutral Disease Neutral Disease Neutral
V1023G Disease Disease Disease Disease Disease Disease
G1034R Neutral Disease Disease Neutral Disease Disease
A1035V Disease Disease Disease Neutral Disease Disease
T1036K Disease Disease Disease Disease Disease Disease
T1036M Disease Disease Disease Disease Disease Disease
A1054T Disease Disease Disease Disease Disease Disease
R1059Q Neutral Disease Disease Neutral Disease Disease
I1061T Disease Disease Disease Disease Disease Disease
A1062V Disease Disease Disease Neutral Neutral Disease
T1066N Neutral Disease Disease Neutral Neutral Neutral
F1087L Disease Disease Disease Disease Disease Disease
Y1088C Disease Disease Disease Disease Disease Disease
E1089K Disease Disease Disease Disease Disease Disease
I1094T Disease Disease Disease Disease Disease Disease
D1097N Disease Neutral Disease Neutral Disease Neutral
N1137I Disease Disease Disease Neutral Neutral Disease
G1140V Disease Disease Disease Neutral Neutral Disease
M1142T Disease Disease Disease Neutral Disease Disease
N1150K Disease Disease Disease Disease Disease Disease
N1156I Disease Disease Disease Disease Disease Disease
N1156S Disease Disease Disease Disease Disease Disease
V1165M Disease Disease Disease Disease Disease Disease
F1167L Disease Disease Disease Disease Disease Disease
C1168Y Disease Disease Disease Disease Disease Disease
A1174V Disease Disease Disease Neutral Disease Disease
R1186H Disease Disease Disease Disease Disease Disease
E1189G Disease Neutral Disease Neutral Disease Disease
T1205K Disease Disease Disease Disease Disease Disease
T1205R Disease Disease Disease Disease Disease Disease
V1212L Disease Disease Disease Disease Disease Disease
L1213F Disease Disease Disease Disease Disease Disease
L1213V Disease Disease Disease Disease Disease Disease
A1216V Disease Disease Disease Neutral Neutral Disease
F1224L Disease Disease Disease Disease Disease Disease
G1236E Disease Disease Disease Neutral Disease Disease
G1240R Disease Disease Disease Disease Disease Disease
S1249G Disease Disease Disease Disease Disease Disease

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