Table 1.
De novo and compound heterozygous variants and prediction of their functional effects.
| Affected genes | RefSeq transcript and variant information* | Variant status | in silico parameters **: MT/MA/SIFT/PPH2(HDIV:HVAR)//FATMM/PROVEAN/LRT |
|---|---|---|---|
| ATXN1 | ENST00000436367.1:exon7:c.G630T:p.Q210H | Heterozygous de novo | N/N/D/-:-/T/N/- |
| DSPP | ENST00000399271.1:exon5:c.2001_2003del:p.667_668del | Heterozygous de novo | Poly/-/-/-:-/-/-/- |
| EPS8L2 | ENST00000318562.8:exon8:c.G616T:p.A206S | Heterozygous | DC/M/T/B:B/T/N/Del |
| EPS8L2 | ENST00000318562.8:exon13:c.1071_1072insCTG:p.T357delinsTL | Heterozygous | Poly /-/-/-:-/-/-/- |
| OBSCN | ENST00000366707.4:exon52:c.A5292T:p.Q1764H | Heterozygous | N/N/T/D:P/T/N/N |
| OBSCN | ENST00000422127.1:exon94:c.20514_20515del:p.6838_6839del | Heterozygous | DC/-/-/-:-/-/-/- |
| PIBF1 | ENST00000326291.6:exon11:c.C1453T:p.Q485X | Heterozygous | DC/-/-/-:-/-/-/- |
| PIBF1 | ENST00000326291.6:exon12:c.A1508G:p.Y503C | Heterozygous | DC/M/D/D:D/T/D/Del |
| ZFHX3 | ENST00000397992.5:exon9:c.C7543T:p.R2515C | Heterozygous | DC/N/T/D:B/D/N/Del |
| ZFHX3 | ENST00000397992.5:exon8:c.G5535T:p.Q1845H | Heterozygous | DC/L/T/D:D/T//Del |
*
According to Ensembl database (http://www.ensembl.org).
**
Obtained by prediction tools MutationTaster (MT) (Schwarz et al., 2010), MutationAssessor (MA) (Reva et al., 2011), SIFT (Ng and Henikoff, 2003), PolyPhen2 (PPH2) HDIV and PPH2 HVAR (Adzhubei et al., 2010), FATHMM (Shihab et al., 2013), PROVEAN (Choi et al., 2012) and LRT (Chun and Fay, 2009).
B, benign; D, damaging; DC, disease causing; Del, deleterious; L, predicted functional effect is low; M, predicted functional effect is medium, N, neutral; Poly, Polymorphism; ProbD, probably damaging; T, tolerated; PosD, possibly damaging.