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. 2006 Oct 31;79(6):1040–1051. doi: 10.1086/510022

Table 1. .

Family Data, Mutations of TRIC, and Allele Frequencies[Note]

Family LOD at θ=0 Marker Pathogenic TRIC Mutation
PKDF399 2.6 D5S647 IVS3-1G→A
PKDF058 2.4 D5S647 IVS4+2delTGAG
PKDF156 5.8 GATA141B10 IVS4+2delTGAG
PKDF141 5.8 D5S589 IVS4+2T→C
PKDF443 1.7 D5S647 IVS4+2T→C
PKDF462 1.7 GATA141B10 IVS4+2T→C
PKSR12 1.8 D5S647 IVS4+2T→C
PKDF340 6.1 GATA141B10 c.1498C→T p.R500X

Note.— Nucleotide changes are numbered according to the first coding ATG in exon 2 of TRIC-a. LOD scores were calculated using parameters described elsewhere.26 Briefly, the disease was coded as fully penetrant, and the disease-allele frequency was set at 0.001. Meiotic recombination fractions were assumed to be equal for males and females. The three splice-site mutations of TRIC shown here were not found in at least 400 control chromosomes. See figure 3C and 3D for the predicted truncated tricellulin proteins resulting from each the three frameshifting splice-site mutations.