TABLE 1.
Nucleotide change | Amino acid | Conservedb | Frequency (out of 110) |
---|---|---|---|
C597T | Silent | NA | 3 |
T1350C | Silent | NA | 3 |
G2258A | Arg–Gln | Yes | 3 |
In addition to the Arg753Q polymorphism, two silent polymorphisms were detected in the SSCP screen of 110 healthy blood donors. Each silent mutation was found in three patients. Aberrant bands were sequenced to verify the nucleotide change.
NA, not applicable.