Table 1.
Biallelic POLE Mutations (GenBank: NM_006231.3)
| ID | Fam | Sex |
Allele 1 |
Allele 2 |
Mat Allele | Pat Allele | Country of Origin | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide Change | Amino Acid Consequence | MAF | Nucleotide Change | Amino Acid Consequence | MAF | ||||||
| P1 | 1 | M | c.2091dupC | p.Phe699Valfs∗11 | 0 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 1 | 2 | UK |
| P2 | 1 | F | c.2091dupC | p.Phe699Valfs∗11 | 0 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 1 | 2 | UK |
| P3 | 2 | M | c.62+1G>A | Essential Splice Site Intron 1 | 0 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | Ireland |
| P4 | 3 | F | c.5940G>A | p.Trp1980∗ | 0.000016 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | Australia |
| P5 | 4 | M | c.4728+1G>T | Essential Splice Site Intron 36 | 0 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | USA |
| P6 | 5 | F | c.3264_3275+13del | Essential Splice Site Intron 26 | 0.000016 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 1 | 2 | Canada |
| P7 | 6 | M | c.1A>T | p.? | 0.000081 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | n/a | n/a | USA |
| P8 | 7 | M | c.1A>T | p.? | 0.000081 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | Ireland |
| P9 | 7 | F | c.1A>T | p.? | 0.000081 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | Ireland |
| P10 | 8 | F | c.3019G>C | p.Ala1007Pro | 0.000009 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 1 | 2 | Ireland |
| P11 | 9 | F | c.5265delG | Ile1756Serfs∗5 | 0 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | Australia |
| P12 | 9 | M | c.5265delG | Ile1756Serfs∗5 | 0 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | Australia |
| P13 | 10 | F | c.2049C>G | p.Tyr683∗ | 0.000028 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 1 | 2 | Australia |
| P14 | 11 | M | c.6518_6519delCT | p.Ser2173Phefs∗130 | 0.000089 | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 2 | 1 | USA |
| P15 | 12 | M | c.801+2T>C | Essential Splice Site Intron 8 | – | c.1686+32C>G | p.Asn563Valfs∗16 | 0.000071 | 1 | 2 | USA |
Abbreviations: ID, individual number; Fam, family number; Mat, maternal; Pat, paternal; n/a, not available. All subjects harbored a loss-of-function mutation in combination with an intronic variant on the alternate allele identified as part of a shared haplotype and found to alter splicing in RNA studies. MAF indicates minor allele frequency in European (non-Finnish) population observed in gnomAD. None of the variants were present in any Non-European population in gnomAD.