Table 2.

TRAF7 Variants Detected in the Cohort

	Subjects 1–4	Subject 5	Subject 6	Subject 7
DNA variant	c.1964G>A	c.1801A>G	c.1036A>G	c.1111C>G
Protein change	p.Arg655Gln	p.Thr601Ala	p.Lys346Glu	p.Arg371Gly
Genomic coordinate	chr16:2226351	chr16:2226104	chr16:2223505	chr16:2223813
Inheritance	de novoa	de novo	de novo	de novo
AA conservation	high	high	high	high
MutationTaster	disease-causing	disease-causing	disease-causing	disease-causing
SIFT	damaging	tolerated	damaging	damaging
PolyPhen-2	probably damaging	probably damaging	benign	possibly damaging
Ubiquitination site	no	no	yes	no

Nomenclature is based on transcript GenBank: NM_032271.2. hg19 genomic coordinates are used.

^aThis variant was de novo in subjects 1–3, and was negative in the mother of subject 4 whose paternal sample was not available.