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, Polyphen2a | 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”