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. 2012 Oct;22(10):1845–1854. doi: 10.1101/gr.137976.112

Figure 1.

Figure 1.

Frequency distributions of KIR haplotypes and motifs. Seventy-one unique haplotypes based on gene content were identified in 793 nuclear families. Eleven haplotypes with frequencies >1% (shaded) account for 94% of the total 2999 parental haplotypes. Haplotypes 01 and 02 (both Cen-A:Tel-A) are the two basic A haplotypes that differ by the type of 2DS4 present; 01 carries the 22-bp frameshift deletion variant and 02 carries the full-length form. Pie charts show the frequencies of unique KIR haplotypes, A (Cen-A:Tel-A) and B (Cen-A:Tel-B, Cen-B:Tel-A, Cen-B:Tel-B) haplotype groups, individual structural motifs, and motif combinations. KIR A haplotypes contain a Cen-A motif (defined by presence of 2DL3) and a Tel-A motif (2DS4 present). B haplotypes can be defined by the presence of a Cen-B (2DS2 present) and/or a Tel-B (2DS1 present); Cen-A motif 3DL3–2DL3–2DP1–2DL1-3DP1, Cen-B motif 3DL3–2DS2–2DL2–(2DL5C–2DS3S5C-2DP1–2DL1)–3DP1, Tel-A motif 2DL4–3DL1–2DS4 full-length or deletion variant–3DL2, Tel-B motif 2DL4–3DS1–2DL5T–2DS3S5T–2DS1–3DL2. Sixty haplotypes, together accounting for 6% of the 2999 resolvable haplotypes, have frequencies <1% and typically carry unconventional gene content. Haplotypes that did not strictly conform to standard A/B haplotypes or motifs because of altered structural composition are labeled “U.”