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

Table 3 Polymorphic pseudogenes with the disruptive sites typed in the HapMap Project^a

CDS disrupted gene	*GPR33*	*SERPINB11*	*TAAR9*
Disruptive mutation^b	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 position^c	140 (332)	89 (388)	61 (344)
Reference allele in human	T	T	T
Reference allele in other primates^d	C	T	T
Test statistic for HWE in the meta-population^e	0.285 (P = 0.867)	8.659 (P = 0.013)	0.071 (P = 0.965)

^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.

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