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Table 4 Novel variations identified in ERCC6(CSB), ERCC8(CSA), ERCC2(XPD), ERCC3(XPB) ERCC5(XPG) and POLH genes

From: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Gene DNA variant cDNA variant Protein Type (DNA) Localization Variant predicted effect Functionnal domain Frequency in EVSdb Frequency in ExACdb Prediction among SIFT and PolyPhen 2 and Mutation Taster Patient #
ERCC6(CSB) c.543G>T r.423_543del (exon 3 deletion) p.Lys181Asn Substitution exon 3 Missense + splicing - NF NF D, PD, DC 4
c.4115delG - p.Gly1372Glufs*22 Deletion exon 21 Frameshift - NF NF - 2
ERCC8(CSA) c.356C>T - p.Ser119Leu Substitution exon 4 Missense WD40 NF NF D, PD, DC 6
c.730C>T - p.His244Tyr Substitution exon 9 Missense WD40 NF NF D, PD, DC 8
c.793A>C - p.Thr265Pro Substitution exon 9 Missense WD40 NF NF D, PD, DC 9
c.927delT - p.Phe309Leufs*19 Deletion exon 10 Frameshift - NF NF - 5
c.1041+1G>T Not tested p.? Substitution intron 10 Splicing - NF NF - 5
c.1122+1delG Not tested p.? Deletion intron 11 Splicing - NF NF - 7
ERCC3(XPB) c.325C>T - p.Arg109* Substitution exon 3 Nonsense - 0.000462 0.000478 - 17
ERCC3(XPB) c.2200-10C>G r.2199_2200ins2200-9_2200-1 (partial insertion of intron 9) p.Glu734_Thr1186delinsIleLeu* Substitution intron 9 Splicing - NF NF - 16
POLH c.764+1G>A r.723_764del42 (partial del exon 6) p.Ser242_Ile255del14 Substitution intron 6 Splicing - NF 8.241e-06 - 10, 11, 12, 13
p.Val221Profs*2
r.661_764del104 (del exon 6)
POLH c.1445C>A - p.Ser482* Substitution exon 11 Nonsense - NF NF - 10
  1. D deleterious, DC disease causing, EVSdb Exome Variant Server database, ExACdb Exome Aggregation Consortium database, NF no frequency data available, PD probably damaging