Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Table 1 STUB1 mutations identified in this study

Subject ID	Phenotype	cDNA change	Protein change	GVS function	GERP	PolyPhen2	LRT	Mutation taster
18161	Ataxia with pyramidal damage	c.367C > G, c.367C > G	p.Leu123Val	Missense	3,6	1	D	D
91078	Ataxia with pyramidal damage	c.719 T > C, c.719 T > C	p.Met240Thr	Missense	4,3	0.99	D	D
25130_01	Spastic ataxia	c.235G > A,	p.Ala79Thr	Missense	4.3	0,996	D	D
		c.236C > A	p.Ala79Asp	Missense	4.3	0.996	D	D

GVS, Genome Variant Server; GERP, Genomic Evolutionary Rate Profiling; LRT, Likelihood Ratio Test; D, Damaging; NHLBI EVS MAF, Minor allele frequency in the NHLBI exome variant server; Gem.app MAF, Minor allele frequency in the in-house database Gem.app.

ISSN: 1750-1172