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Table 3 Polymorphic pseudogenes with the disruptive sites typed in the HapMap Projecta

From: Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates

CDS disrupted gene GPR33 SERPINB11 TAAR9
Disruptive mutationb Cga (R) → Tga Gaa (E) → Taa Aaa (K) → Taa
dbSNP ID rs17097921 rs4940595 rs2842899
Genomic location chr14-:31,022,505 chr18+:59,530,818 chr6+:132,901,302
Disrupted codon positionc 140 (332) 89 (388) 61 (344)
Reference allele in human T T T
Reference allele in other primatesd C T T
Test statistic for HWE in the meta-populatione 0.285 (P = 0.867) 8.659 (P = 0.013) 0.071 (P = 0.965)
  1. aSee Table S4 in Additional file 1 for allele frequency information. bBoth codons before and after the mutation (→) are shown with the affected base capitalized. The amino acid residue encoded by the codon is given in parentheses. cThe disrupted codon position in the coding sequence (CDS). The number of codons in the CDS is given in parentheses. dWidely regarded as the ancestral allele. Other primates currently include chimp, orangutan, and macaque. eThe χ2 goodness-of-fit test is used to test for the Hardy-Weinberg equilibrium (HWE) in the meta-population using the pooled genotype and allele frequency data.