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

Table 2 Human polymorphic pseudogenes

Gene	CDS disruptive mutation		dbSNP ID^c	HapMap SNP ID
	Change^a	Location^b
Nonsense mutation
FBXL21	taT (Y) → taA	chr5+:135,300,350	rs17169429 (+27)	rs17169429 (+27)
FCGR2C	Cag (Q) → Tag	chr1+:159,826,011	rs3933769 (-60)	rs3933769 (-60)
GPR33	Cga (R) → Tga	chr14-:31,022,505	rs17097921	rs17097921
SEC22B	Caa (Q) → Taa	chr1+:143,815,304	rs2794062	rs16826061 (+95)
SERPINB11	Gaa (E) → Taa	chr18+:59,530,818	rs4940595	rs4940595
TAAR9	Aaa (K) → Taa	chr6+:132,901,302	rs2842899	rs2842899
Frame-shift mutation
CASP12	ΔCA	chr11-:104,268,394-5	rs497116 (-67)	rs497116 (-67)
KRTAP7-1	ΔT	chr21-:31123841	rs35359062	rs9982775 (-20)
PSAPL1	∇A	chr4-:7,487,457	rs58463471	rs4484302 (+441)
TMEM158	∇A	chr3-:45,242,396	rs11402022	rs33751 (+725)
TPSB2	ΔC	chr16-:1,219,240	rs2234647	rs2745145 (-1771)

^aBase change, deletion, and insertion are denoted by '→', '∇', and 'Δ' respectively. ^bThe genomic location, based on the NCBI build 36 of the Human Reference Genome, includes the chromosome, the strand ('+' being forward and '-' reverse), and the coordinate of the base change. ^cThe identifier of the mutation as in the dbSNP (build 129). If a mutation is not included in the dbSNP, the identifier of the closest SNP and its distance (shown in parentheses) to the mutation are shown instead.

ISSN: 1474-760X