Table 3.
Missense DNMT1 variants identified in BWS cases with LOM at KCNQ1OT1 TSS-DMR
| SNV ID | Base change NM_001130823.1 | AA change NP_001124295 | Location NM_001130823.1 | Ch37/Hg19 location | BWS VAF | dbSNP147 VAF | VEP |
|---|---|---|---|---|---|---|---|
| Rs 61750053 | c.206G>A | p.Arg69His | Exon 3/41 | Chr19:10291473 | 0.009 | 0.0089 | Moderate |
| Rs 2228612 | c.979A>G | p.Ile327Val | Exon 13/41 | Chr19:10273372 | 0.11 | 0.135 | Moderate |
| Rs 138841970 | c.406C>T | p.Arg136Cys | Exon 4/41 | Chr19:10291065 | 0.009 | 0.00028 | Moderate |
| Rs 150331990 | c.3353A>G | p.His1118Arg | Exon 31/41 | Chr19:10251822 | 0.009 | 0.00001 | Moderate |
| Rs 757460628 | c.3668G>A | p.Arg1223His | Exon 33/41 | Chr19:10250860 | 0.009 | 0.00002 | Moderate |
Variant allele frequencies were derived from dbSNP147. The variant effect predictor (VEP) tool was used to ascertain effects on protein function.
VAF variant allele frequency