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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: Alzheimers Dement. 2019 Feb 10;15(5):709–719. doi: 10.1016/j.jalz.2018.12.010

Figure 5. IDENTIFICATION OF AN ILE416THR-ASSOCIATED HAPLOTYPE IN THE COPACABANA FAMILY.

Figure 5

Haplotype analysis of phased genotypes from 22 Ile416Thr variant carriers and 9 non-carriers (n = 31) identified seven haplotypes composed of 16 single nucleotide polymorphism (SNPs) spanning 86,664 base pairs on chromosome 14. This haplotype spanned exons 4 – 12 of PSEN1, including the Ile416Thr variant (last amino acid of exon 11, and exons 1 - 10 of PAPLN. The combination of alleles for all 16 SNPs in each of the seven identified haplotypes are provided in the table in the top panel. A single copy of one haplotype was found exclusively in all variant carriers and was absent from all non-variant carriers (I416T+, last row of top panel table). Recombination rates are represented in centimorgans per megabase, and were obtained from the hg19 genetic map provided as part of the Eagle v2.4 package and. The red arrowheads point to the site of the Ile416Thr mutation. Freq: frequency.