Ethnicity
|
Exon number
|
Nucleotide change
|
Amino acid change
|
Mutation type
|
Reference
|
---|
Point mutation
| | | | |
Chinese
|
2
|
c.136delG
|
p.Asp46Ilefs*37
|
Frameshift
|
[31]
|
Japanese
|
4
|
c.346 T > G
|
p.Tyr116Asp
|
Missense
|
[32]
|
Japanese
|
6
|
c.578G > T
|
p.Gly193Val
|
Missense
|
[32]
|
Japanese
|
9
|
c.883C > T
|
p.Arg295Cys
|
Missense
|
[25]
|
Korean
|
9
|
c.884G > Aa
|
p.Arg295His
|
Missense
|
[8], This study
|
Japanese
|
15
|
c.1489C > T
|
p.Arg497*
|
Nonsense
|
[25]
|
Japanese
|
16
|
c.1697A > T
|
p.Ile566Asn
|
Missense
|
[33]
|
Japanese
|
32
|
c.3505C > T
|
p.Gln1169*
|
Nonsense
|
[25]
|
Japanese, Chineseb
|
33
|
c.3614C > T
|
p.Pro1205Leu
|
Missense
|
[22, 24, 32, 34]
|
Splicing mutation
| | | | |
Japanese
|
2
|
c.79-1G > T
|
Exon 2 skipping
|
Splicing
|
[25]
|
Korean
|
IVS5
|
c.537 + 5G > A
|
?c
|
Splicing
|
[6], This study
|
Japanese
|
25
|
c.2675A > G
|
Exon 25 skipping
|
Splicing
|
[32]
|
Chinese
|
30
|
c.3112-1G > A
|
Exon 30 skipping
|
Splicing
|
[31]
|
Deletion mutation
| | | | |
Korean
|
30
|
c.3210_3212delGAG
|
p.Arg1072del
|
Small deletion
|
[18, 19], This study
|
Korean
|
8
| |
Exon 8 deletion
|
Gross deletion
|
[13], This study
|
Korean
|
18–33
| |
Exon 18–33 deletions
|
Gross deletion
|
This study
|
Japanese
|
20–26
| |
Exon 20–26 deletions
|
Gross deletion
|
[29]
|
Korean
|
27–33
| |
Exon 27–33 deletions
|
Gross deletion
|
[6], This study
|
-
aThis mutation has been reported previously in two patients with GSD IX and is predicted to affect protein function by in silico analyses (SIFT and PolyPhen-2) and to affect splicing, potentially through activation of an exonic cryptic donor site, by both Human Splice Finder software and by a machine-learning technique that scores how strongly genetic variants affect RNA splicing [27]
-
bThis mutation has been reported as a founder mutation in the Dutch population
-
cAlthough in vitro analysis for the splicing effect of c.537 + 5G > A was not performed, in vivo results confirming phosphorylase b kinase deficiency have been reported to constitute a pathogenic mutation in a patient with GSD IX in previous literature. This mutation was predicted to affect splicing, potentially through alteration of the wild-type donor site