Table 2.

Phenotype prediction by in silico tools. The prediction outcomes of each individual tool are listed in the table. ‘D' stands for ‘disease’ prediction, while ‘N' stands for ‘neutral’ prediction. The ‘P' stands for ‘pathogenic’ prediction by the SAAMP algorithm. The cut-off value of the SAAMP algorithm is set as 0.5. I, II and III represent infantile, late-infantile, and juvenile GM1 or GM2 gangliosidosis, respectively.

Mutation	Phenotype	Bioinformatic Tool
		I-Mutant	PANTHER	SNP&GO	PROVEAN	PolyPhen	SIFT	PHD-SNP	SAAMP 2.0	Pathogenic index
GLB1
p.Arg68Trp	I	D	D	D	D	D	D	D	P	1
p.Thr82Met	III	N	D	D	D	D	N	D	P	0.75
p.Gly123Arg	III	D	D	D	D	D	D	D	P	1
p.Arg148Cys	I	D	D	D	D	D	D	D	P	1
p.Leu155Arg	III	D	D	D	D	D	D	D	P	1
p.Tyr192His	III	D	D	D	D	D	D	D	P	1
p.Arg201Cys	II	D	D	D	D	D	D	D	P	1
p.Leu228Pro	II or III	D	D	D	D	D	D	D	P	1
p.Tyr270Asp	I	D	D	D	D	D	D	D	P	1
p.His281Tyr	I	N	D	D	D	D	D	D	P	1
p.Ala301Val	III	D	D	N	D	D	D	D	P	1
p.Asn318Asp	I	D	D	D	D	D	D	D	P	1
p.Asp441Asn	I	D	D	D	D	D	D	D	P	1
p.Phe556Ser	II	D	N	N	D	D	D	D	P	1
p.Lys578Arg	I, II	D	D	D	D	D	D	D	P	1
HEXA
p.Leu127Arg	I	D	D	D	D	D	D	D	P	1
p.Arg170Trp	I	D	D	D	D	D	D	D	P	1
p.Arg178His	III	D	D	D	D	D	D	D	P	1
p.Gly461Val	III	D	D	D	D	D	D	D	P	1
p.Arg499Cys	III	D	D	D	D	D	D	D	P	1
p.Arg499His	III	D	D	D	D	D	D	D	P	1
HEXB
p.Gly301Arg	I	D	D	D	D	D	D	D	P	1
p.Val493Gly	I	D	D	D	D	D	D	D	P	1