Table 2.
FYCO1 Mutations in 13 arCC Families
| Family | Allele Sharing | Maximum LOD Score | Exon | Nucleotide Change | Predicted Amino Acid Change |
|---|---|---|---|---|---|
| 060064 | no | 3.89 | 8 | c.1045 C>T | p.Gln349X |
| 060003 | yes | 3.85 | 8 | c.2206C>T | p.Gln736X |
| 060012 | yes | 2.52 | 8 | c.2206C>T | p.Gln736X |
| 060069 | yes | 5.62 | 8 | c.2206C>T | p.Gln736X |
| 060054 | no | 2.61 | 8 | c.2761C>Ta | p.Arg921X |
| 060041 | no | 4.09 | 8 | c.2830C>Ta | p.Arg944X |
| 060044 | no | 2.53 | 9 | c.3150+1 G>T | inactivation of splice donor site |
| 060091 | no | 4.88 | 13 | c.3755 delC | p.Ala1252AspfsX71 |
| 060094 | yes | 3.82 | 14 | c.3858_3862dupGGAAT | p.Leu1288TrpfsX37 |
| 060014 | yes | 2.73 | 14 | c.3858_3862dupGGAAT | p.Leu1288TrpfsX37 |
| 060058 | yes | 2.36 | 16 | c.4127T>C | p.Leu1376Pro |
| 060031 | yes | 2.28 | 16 | c.4127T>C | p.Leu1376Pro |
| Family 119 | no | n/a | 8 | c.1546C>T | p.Gln516X |
Nucleotide and amino acid designations are based on Refseq NM_024513.2.
a
These C>T changes occurred in a CpG dinucleotide.