S.No
|
Location
|
Nucleotide change
|
dbSNP ID
|
General
|
General
|
Functional
|
Functional
|
Conservation
|
Conservation
|
PolyPhen-2
|
I Mutant v2.0
|
Consurf Score
|
VarSome
(ACMG guidelines)
|
|
|
|
|
DANN
|
Mutation
taster
|
SIFT
|
Provean
|
LRT
|
Mutation Assessor
|
|
|
|
|
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
Missense variants |
1 |
GNPTAB |
c.3598G>A |
rs137853825 |
0.9982 |
Disease causing |
D |
Damaging |
Deleterious |
Low |
PD |
Decreased stability |
9 |
Likely Benign |
2 |
GNPTG |
c.802A>C |
rs759796840 |
0.9696 |
Disease causing |
D |
Neutral |
Deleterious |
Medium |
PD |
Decreased
stability |
8 |
VUS |
3 |
NAGPA |
c.131G>C |
rs374266430 |
0.9819 |
Polymorphism |
D |
Damaging |
Neutral |
Medium |
PD |
Decreased
stability |
4 |
VUS |
4 |
NAGPA |
c.139C>T |
rs371054576 |
0.8056 |
Polymorphism |
T |
Neutral |
Neutral |
Neutral |
B |
Decreased stability |
1 |
VUS |
5
|
NAGPA
|
c.1394 C>T
|
rs7188856
|
0.3973
|
Polymorphism
automatic
|
T
|
Neutral
|
Neutral
|
Low
|
PD
|
Decreased stability
|
1
|
Benign
|
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous variants |
Synonymous
variants |
6 |
GNPTAB |
c.1932A>G |
rs10778148 |
0.4236 |
- |
- |
- |
- |
- |
- |
- |
- |
Benign |
7 |
GNPTG |
c.702T>C |
rs532275192 |
0.3353 |
- |
- |
- |
- |
- |
- |
- |
- |
VUS |
8 |
GNPTG |
c.813G>A |
rs377647926 |
0.4781 |
- |
- |
- |
- |
- |
- |
- |
- |
VUS |
9 |
NAGPA |
c.333 G>A |
rs2972272 |
0.5259 |
- |
- |
- |
- |
- |
- |
- |
- |
Benign |
10 |
NAGPA |
c. 1485C>T |
rs887854 |
0.7803 |
- |
- |
- |
- |
- |
- |
- |
- |
Benign |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding variants |
Non coding
variants |
11 |
GNPTG |
-4 C>T |
rs554707396 |
0.9074 |
- |
- |
- |
- |
- |
- |
- |
- |
VUS |
12 |
NAGPA |
c.1174+53C>A |
rs2937112 |
0.7424 |
- |
- |
- |
- |
- |
- |
- |
- |
Benign |