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Table 2 TRRAP and AR Variant Analysis

From: 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

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, Polyphen2a SIFT 0.015 (damaging)
Polyphen2 D
SIFT 0.005 (damaging) Polyphen2 B
  1. 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”