Table 3. Common protein haplotypes of RPGRIP1.
Haplotype | P96Q (ex 3) | K192E (ex 4) | A547S (ex 13) | R598Q (ex 14) | A960P (ex 17) | E1033Q (ex 18) | D1114G (ex 21) | D1150T (ex 21) | G1240E (ex 23) | Overall freq | AA freq | EA freq | MA freq |
1 | Pro | Lys | Ala | Arg | Ala | Glu | Asp | Asp | Gly | 0.410 | 0.485 | 0.375 | 0.371 |
2 | Gln | Glu | Ala | Arg | Ala | Glu | Asp | Asp | Gly | 0.150 | 0.091 | 0.031 | 0.314 |
3 | Gln | Glu | Ala | Gln | Ala | Glu | Asp | Asp | Glu | 0.02 | 0.061 | 0 | 0 |
4 | Pro | Glu | Ala | Gln | Ala | Glu | Asp | Asp | Glu | 0.02 | 0.061 | 0 | 0 |
5 | Pro | Glu | Ala | Arg | Ala | Glu | Asp | Asp | Gly | 0.090 | 0.091 | 0 | 0.171 |
6 | Pro | Glu | Ala | Arg | Ala | Glu | Asp | Tyr | Glu | 0.01 | 0.03 | 0 | 0 |
7 | Pro | Glu | Ser | Arg | Ala | Glu | Asp | Asp | Glu | 0.01 | 0.03 | 0 | 0 |
8 | Pro | Glu | Ser | Arg | Ala | Glu | Asp | Asp | Gly | 0.070 | 0.061 | 0.125 | 0.029 |
9 | Pro | Glu | Ser | Arg | Ala | Gln | Asp | Asp | Gly | 0.090 | 0 | 0.250 | 0.029 |
10 | Pro | Glu | Ala | Arg | Ala | Gln | Asp | Asp | Gly | 0.080 | 0 | 0.156 | 0.086 |
11 | Pro | Lys | Ala | Arg | Ala | Gln | Asp | Asp | Gly | 0.02 | 0 | 0.063 | 0 |
12 | Pro | Lys | Ser | Arg | Ala | Glu | Asp | Asp | Gly | 0.01 | 0.03 | 0 | 0 |
13 | Pro | Lys | Ala | Arg | Pro | Glu | Asp | Asp | Gly | 0.01 | 0.03 | 0 | 0 |
14 | Pro | Lys | Ala | Arg | Ala | Glu | Gly | Asp | Gly | 0.01 | 0.03 | 0 | 0 |
Protein haplotypes from over 100 cell lines monosomic for chromosome 14, and their frequencies. Minor alleles are in bold. Ex = exon, freq = frequency, AA = African American, EA = European American, MA = Mexican American.