Table 2.
Examples of ERCC1 and ERCC4 mutations in human individuals with various inherited disorders.
| Disorder | Patient | Ref. | Protein | Mutation | Protein change |
|---|---|---|---|---|---|
| FA | FA104 | Bogliolo et al. (2013) | XPF | 5 bp deletion exon 8 | Thr495Asnfs*6 |
| Missense mutation exon 11 | Arg689Ser | ||||
| FA | 1333 | Bogliolo et al. (2013) | XPF | 28 bp duplication in exon 11 of maternal allele | Ile800Thrfs*24 |
| Missense mutation in paternal allele | Leu230Pro | ||||
| CS | CS1USAU | Kashiyama et al. (2013) | XPF | Exon 4 point mutation | Cys236Arg |
| Exon 8 frameshift insertion, premature stop codon | Tyr577* | ||||
| XP/CS/FA | XPCS1CD | Kashiyama et al. (2013) | XPF | Heterozygous point mutation | Cys236Arg |
| Heterozygous point mutation | Arg589Trp | ||||
| XFE progeroid | XP51RO | Niedernhofer et al. (2006) | XPF | Point mutation | Arg153Pro |
| XP | XP23OS | Matsumura et al. (1998) | XPF | 1 bp insertion yielding a frameshift at 444 and stop at 482 | Lys444 and 482* |
| XP | XP42RO | Sijbers et al. (1998b) | XPF | Point mutation | Arg799Trp |
| COFS | 165TOR | Jaspers et al. (2007) | ERCC1 | Point mutation (Maternal allele) | Gln158* |
| Point mutation (Paternal allele) | Phe231Leu | ||||
| CS type II | CS20LO(103) | Kashiyama et al. (2013) | ERCC1 | Homozygous mutation, exon 7 | Phe231Leu |
*
indicates that the mutation produces a termination codon, sometimes with a frameshift (fs) resulting in the indicated number of amino acid residues before termination.