Table 4. IL12RB1 polymorphisms that result in amino acid changes^*.

SNPid	Nucleotide change	Amino acid change	Population frequency a (number of chromosomes tested)
rs11575925	222C>G	S74R	0.4 % North America (4550)
			0.1 % European descent (1285)
rs147215816	271G>A	A91T	n.a.b
rs11575926	467G>A	R156H	15 % European descent (1285)
			11.3 % North Americans (4550)
			0 % Asian, various (345)
			0 % Sub-Sahara African (238)
rs11575934	641A>G	Q214R	37.5 % Asian, various (354)
			28.5 % European descent (1305)
			10.8 % Sub-Sahara African (120)
rs375947	1094T>C	M365T	38.3 % Asian, various (180)
			28.7 % European descent (569)
			25.7 % Sub-Sahara African (226)
			14 % Mexican ancestry (100)
rs401502	1132G>C	G378R	38.2 % Asian, various (296)
			35 % Europeans (286)
			18.6 % Sub-Sahara African (118)
ss539004547	1312C>T	H438Y	0.9 % Japanese (112)c
rs11575935	1573G>A	A525T	1.7 % Asian, various (120)
			0.4 % European descent (2040)
ss539004548	1781G>A	G594E	0.9 % Japanese (112)c

^*only polymorphisms included that have been analyzed in a retroviral expression model and were found not to have an effect on IL-12Rβ1 function [van de Vosse et al., 2005].

^adata from the SNP database [NCBI SNP database, 2012],

^bidentified in a Chinese MSMD patient,

^cdata from [Sakai et al., 2001].

Note: Two SNPs are still without rs-number, these have been requested (24-9-2012).