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.

Zhang et al. Genome Biology 2010 11:R26   doi:10.1186/gb-2010-11-3-r26