| If this change results in a functionally different amino acid, then a missense mutation may result. |
| Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk. |
| The latter harbor the ortholog of the most frequently encountered human R350P desmin missense mutation. |
| All mutations, including the missense mutations, result in nearly absent alpha-fucosidase activity. |
| All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. |
| Protein modeling demonstrated that the missense mutation is damaging and may alter binding to ATP molecules. |
