Changes found with direct sequencing in the Eu-HMTase1 gene
| Sequence change | Amino acid change | Exon | Segregation | ||
|---|---|---|---|---|---|
| *NA, not applicable. | |||||
| Known polymorphisms | |||||
| c.347 T→C | p.L116L | 1 | *NA | ||
| c.351 T→C | p.P117P | 1 | *NA | ||
| c.951 G→A | p.S317S | 4 | *NA | ||
| c.996 T→C | p.G332G | 4 | *NA | ||
| Novel changes | |||||
| c.538 G→A | p.V180I | 1 | Father heterozygote | ||
| c.1069G→A | p.A357T | 4 | Father and mother heterozygote | ||
| c.2426 C→G | p.S809C | 15 | Father heterozygote | ||
| c.2764 G→A | p.D922N | 17 | Mother heterozygote | ||