De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

Table 2 TRRAP and AR Variant Analysis

Chromosomal location	7q22.1	Xq12
Position (GRCh37/hg19)	98,553,863	66,766,162
Gene Name	TRRAP	AR
Reference	G	C
Number of reads with reference in PROBAND	56	0
Alternative in PROBAND	A	T
Number of reads with alternative in PROBAND	71	39
Number of reads with reference in MOTHER	93	41
Alternative in MOTHER	None	T
Number of reads with alternative in MOTHER	None	62
Number of reads with reference in FATHER	147	50
Alternative in FATHER	None	none
Number of reads with alternative in FATHER	None	none
Variant type	Nonsynonymous SNV	Nonsynonymous SNV
Refseq ID	NM_003496	NM_000044.4
Variant DNA (HGVS nomenclature _c)	c.5957G > A,	c.1174C > T
Variant DNA (HGVS nomenclature _p)	p.Arg1986Gln	p.Pro392Ser
Prediction from SIFT, Polyphen2^a	SIFT 0.015 (damaging) Polyphen2 D	SIFT 0.005 (damaging) Polyphen2 B

^a SIFT and PolyPhen2 scores are derived from Liu et al., 2011. SIFT scores <= 0.05 are predicted “damaging” and > 0.05 are predicted to be “tolerated”. Polyphen2 scores > = 0.2 and < 0.85 are considered “possibly damaging or P” and > = 0.85 are predicted to be “probably damaging or D”