Table 1.
Genotype definitions | Diplotypes observed | Genotype at rs4149056 | Observed phenotype |
---|---|---|---|
An individual carrying two functional alleles | *1/*1 | TT | Homozygous wild-type or normal (55–88% of patients) high activity |
An individual carrying one functional allele plus one reduced-function allele | *1/*5 (or *1/*15, *1/*16, or *1/*17) | TC | Heterozygous (11–36% of patients) intermediate activity |
An individual carrying two reduced-function alleles | *5/*5 (or *5/*15, *5/*16, *5/*17, *15/*15, *15/*16, *15/*17, *16/*16, *16/*17, or *17/*17) | CC | Homozygous variant or mutant (0–6% of patients) low activity |