The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

Table 2 GALNS gene mutation identified in Gujarati-Indian MPS IVA patients using Sanger sequencing

Patient ID	cDNA change^a	Amino acid change^b	Location^c	Mutation type	Allele frequency (gnomAD^d)	Ethnicity	Reference	PolyPhen-2 analysis	DANN score	ACMG-AMP classification
P20	c.121-7C > G	-	Intron 1	Splice site	NA	Indian	Present study	-	-	Uncertain significance/ likely pathogenic
P4, P19	c.107 T > G	p.L36R	Exon 1	Missense	0.00003	Southeast Asian- multi-ethnic, European	Morrone et al. 2014 [11], Caciotti et al. 2015 [14]	1 Probably damaging	0.9889	Pathogenic
P7	c.116A > G	p.D39G	Exon 1	Missense	NA	Indian	Present study	0.997 Probably damaging	0.9844	Likely pathogenic
P1-P3, P5, P9, P10, P11^e, P12, P14, P17, P18, P21-P23	c.230C > G	p.P77R	Exon 2	Missense	NA	Indian, Turkish	Tomatsu et al. 1995 [15], Present study	1 Probably damaging	0.9984	Pathogenic
P16	c.235 T > C	p.C79R	Exon 2	Missense	0.00000807	Indian, Malaysian	Bidchol et al. 2014 [12], Leong et al. 2019 [9]	1 Probably damaging	0.9974	Pathogenic
P15^e	c.374C > T	p.P125L	Exon 4	Missense	0.00000399	Chinese	Zhao et al. 2011 [16]	1 Probably damaging	0.9247	Pathogenic
P8	c.452C > T	p.P151L	Exon 5	Missense	0.0000279	Indian	Bidchol et al. 2014 [12]	1 Probably damaging	0.9986	Pathogenic
P11^e	c.764G > C	p.G255A	Exon 8	Missense	NA	Indian	Present study	1 Probably damaging	0.9979	Likely pathogenic
P15^e	c.839_841delACA	p.N280del	Exon 8	Deletion	NA	Indian	Present study	-	-	Likely pathogenic
P13	c.1049 T > C	p.L350P	Exon 10	Missense	NA	Indian	Present study	1 Probably damaging	0.9989	Likely pathogenic
P6	c.1241_1242insA	p.I416Hfs^e2	Exon 11	Frame shift	NA	Indian	Present study	-	-	Pathogenic

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