Table 2.

The genotypes of variants in the SGSH gene in mucopolysaccharidosis type IIIA patients in this study

Patient ID	Exon no.	Alleles no.	Percentage	Variant	Nucleotide change	Type of Variant	Protein change	Mutation effect on protein	Ref.
1	6	2	50%	Y224*	c.672 C > A	Nonsense	Tyrosine to stop codon	Premature termination after 224 aa	[20]
2	6	2	50%	Y224*	c.672 C > A	Nonsense	Tyrosine to stop codon	Premature termination after 224 aa	[20]
3	6	2	50%	Y224*	c.672 C > A	Nonsense	Tyrosine to stop codon	Premature termination after 224aa	[20]
4	6	2	50%	Y224*	c.672 C > A	Nonsense	Aspartic acid to Thereonine	Premature termination after 224aa	[20]
5	7	2	10%	D317Tfs*96	c.948delA 1 bb deletion	Frameshift Deletion	Arginine to cysteine	Frameshift of premature termination at position 317 after 96 aa	Novel
6	8a	2	30%	R377C	c.1129 C > T	Missense	Arginine to cysteine	Non-conservative aa exchange	(37–39)
7	8a	2	30%	R377C	c.1129 C > T	Missense	Valine to Serine	Non-conservative aa exchange	(37–39)
8	8a	2	10%	V361Sfs*52	c.1080delC 1 bb deletion	Frameshift Deletion	Tyrosine to stop codon	Frameshift of premature termination at position 361 after 52 aa	(21,40)
9	6	2	50%	Y224*	c.672 C > A	Nonsense	Arginine to cysteine	Premature termination after 224aa	[20]
10	8a	2	30%	R377C	c.1129 C > T	Missense	Valine to Serine	Non-conservative aa exchange	(37–39)