Table 3C.

Predicted Deleteriousness by Several in Silico Tools for the Variants Found in Ubiquitin Genes

Case ID	Gene	Trancript	Variant/AA change	SIFT	PolyPhen	PredictSNP2	Mutation Taster	Mutation Assessor (FI score)
R120	TRIM2	NM_015271.3	c.158G>C/p.Cys53Ser	D	Probably damaging	87% D	D/AA/Protein/SS	High (4.6)
R240	HECTD1	NM_015382.3	c.5000G>A/p.Arg1667His	D	Probably damaging	87% D	D/AA/Protein/SS	Low (1.83)
R110, R111	SQSTM1	NM_003900.4	c.1210A>G/p.Met404Val	D	Possibly damaging	87% D	D/AA/Protein/SS	Medium (2.98)

AA, amino acid; FI, functional impact.