Table 4.
Allele Frequencies in the Hispanic/African-American HFI Population
| American Population |
Patients | Alleles | A149Pa (c.448G>C; p.A150P) |
A174D (c.524C>A; p.A175D) |
IVS1+1G>C (−) |
Δ4E4 (c.360–363 delCAAA) |
R59Op (c.178C>T; p.R60X) |
L256P (c.770T>C; p.L257P) |
Otherb | Unknown |
|---|---|---|---|---|---|---|---|---|---|---|
| Hispanic/African-American | 36 | 72 | 17% | 10% | 5.5% | 5.5% | 3% | 3% | 2% | 54% |
| Totalc | 155 | 272 | 43% | 9% | 1.5% | 4% | 4% | 1.5% | 5% | 32% |
a
Allele nomenclature given as first reported in the literature; in parentheses are the recommended nomenclatures for these alleles as per HGVS (http://www.hgvs.org/rec.html); c. is based on the dDNA and p. is based on the protein with amino acid numbering starting at the cleaved methionine (Doyle and Tolan 1995).
b
Includes all alleles listed on Locus-Specific Database as of April 30, 2010 (http://www.bu.edu/aldolase/HFI/hfidb/hfidb.html).
c
Based on values reported in Coffee et al 2009.