| Allele Designation |
Nucleotide Change |
Mutation Effect |
Predicted Enzyme Activity |
| *2 |
c.681 G>A |
Splicing defect |
Non-functional |
| *3 |
c.636 G>A |
New stop codon |
Non-functional |
| *17 |
c.991A>G |
Increased gene transcription |
Increased function |
Note: The genotype reported as "no allelic variants" is suggestive of *1 alleles.
|
