S.No |
GENE |
Nucleotide change |
Amino acid change |
Exon |
dbSNP ID |
Hom/Het (n=64 probands) |
Allele frequency (n=128
alleles) |
Stuttering studies |
Allele frequency in
South Asian ExAC |
Allele frequency in total
ExAC |
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
|
Glu1200Lys
|
Exon 19
|
rs137853825
|
- /1
|
0.008
|
(8/1013cases)
= 0.00789
|
0.02181
|
0.003552
|
2 |
GNPTG |
c.802A>C |
Ile268Leu |
Exon 10 |
rs759796840 |
- /1 |
0.008 |
|
0.00006064 |
0.00000825 |
3
|
NAGPA
|
c.131G>C
|
Arg44pro
|
Exon 2
|
rs374266430
|
- /1
|
0.008
|
(1/1013)
= 0.000099
|
0.000
|
0.00003589
|
4 |
NAGPA |
c.139C>T |
Leu47Phe |
Exon 2 |
rs371054576 |
- /1 |
0.008 |
|
0.000 |
0.00002625 |
5 |
NAGPA |
c.1394 C>T |
Thr465Ile |
Exon 10 |
rs7188856 |
- /22 |
0.172 |
|
0.1731 |
0.301 |
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 |
Thr644Thr |
Exon13 |
rs10778148 |
42/12 |
0.75 |
120/1708 alleles |
0.6234 |
0.5885 |
7 |
GNPTG |
c.702T>C |
Pro234Pro |
Exon 9 |
rs532275192 |
- /1 |
0.008 |
|
0.003333 |
0.0004621 |
8 |
GNPTG |
c.813G>A |
Thr271Thr |
Exon 10 |
rs377647926 |
- /18 |
0.14 |
|
0.00004515 |
0.00002481 |
9 |
NAGPA |
c.333 A>G |
Gly111Gly |
Exon 2 |
rs2972272 |
41/19 |
0.789 |
229/1708 |
0.8266 |
0.7102 |
10 |
NAGPA |
c. 1485C>T |
Asn495Asn |
Exon
10 |
rs887854 |
42/22 |
0.828 |
|
0.8218 |
0.7017 |
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 |
- |
5’UTR |
rs554707396 |
- /1 |
0.008 |
|
0.001656 |
0.00142 |
12
|
NAGPA
|
c.1174+53C>A
|
-
|
intron 7
|
rs2937112
|
22/26
|
0.547
|
|
-
|
0.4295 (1000
Genomes)
|