Table 4. Common protein haplotypes of RPGRIP1L.
Haplotype | A229T (ex 6) | R744Q (ex 16) | G1025S (ex 21) | D1264N (ex 26) | Overall frequency | AA freq | EA freq | MA freq |
1 | Ala | Arg | Gly | Asp | 0.851 | 0.842 | 0.897 | 0.811 |
2 | Thr | Arg | Ser | Asp | 0.053 | 0.053 | 0 | 0.108 |
3 | Ala | Arg | Ser | Asp | 0.035 | 0.079 | 0 | 0.027 |
4 | Ala | Arg | Ser | Asn | 0.026 | 0 | 0.026 | 0.054 |
5 | Ala | Gln | Gly | Asp | 0.035 | 0.026 | 0.077 | 0 |
Protein haplotypes from over 100 cell lines monosomic for chromosome 16, and their frequencies. Minor alleles are in bold. Ex = exon, freq = frequency, AA = African American, EA = European American, MA = Mexican American.