SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies

Table 4

Genotypes and allelic frequency of common SIAE variants in patients with primary antibody deficiencies (PADs).

						CVID			IgAD			Family members			Europeans (NCBI)
							Allele frequency			Allele frequency			Allele frequency		Allele frequency
Number	Location	DNA numbering	cDNA numbering	Amino acid substitution	rs	Genotypes^a	Total	With autoimmunity	Genotypes^a	Total	With autoimmunity	Genotypes^a	Total	With autoimmunity
1	Exon 2	g.11905G>A	c.190G>A	G64S	rs76655561	0/0/12	0.000	0.000	0/1/32	0.015	0.000	0/0/9	0.000	0.000	0.003
2	Exon 2	g.11927A>G	c.212A>G	K71R	rs12282107	0/0/12	0.000	0.000	0/1/32	0.015	0.000	0/0/9	0.000	0.000	0.007
3	Intron 2	g.11964G>A	c.229+20G>A		rs512225	0/5/7	0.208	0.227	1/10/22	0.182	0.176	0/3/6	0.167	0.125	0.251
4	Exon 3	g.20536A>G	c.265A>G	M89V	rs78778622	0/1/11	0.042	0.045	0/2/31	0.030	0.029	0/1/8	0.056	0.125	0.051
5	Exon 4	g.26532T>C	c.427T>C	L143L	rs201552273	0/0/12	0.000	0.000	0/1/32	0.015	0.000	0/0/9	0.000	0.000	0.001
6	Exon 4	g.26573T>C	c.468T>C	S156S	rs1942663	0/0/12	0.000	0.000	0/2/31	0.030	0.029	0/0/9	0.000	0.000	0.024
7	Intron 5	g.31722C>T	c.722+37C>T		rs79300393	0/0/12	0.000	0.000	0/1/32	0.015	0.029	0/0/9	0.000	0.000	0.023
8	Intron 7	g.33978C>T	c.966+39C>T		rs142737112	0/0/12	0.000	0.000	0/1/32	0.015	0.029	0/0/9	0.000	0.000	0.005
9	Intron 8	g.41675A>G	c.1124+81A>G		rs620499	0/1/11	0.042	0.045	0/4/29	0.061	0.029	0/1/8	0.056	0.000	N/A
10	Intron 8	g.42499C>T	c.1125-68C>T		rs77343428	0/0/12	0.000	0.000	0/1/32	0.015	0.000	0/0/9	0.000	0.000	Ν/Α
11	Intron 9	g.44078C>T	c.1321-24C>T		rs138194723	0/1/11	0.042	0.045	0/0/33	0.000	0.000	0/1/8	0.056	0.125	0.029
12	Exon 10	g.44233G>A	c.1452G>A	Τ484T	rs7941327	0/0/12	0.000	0.000	0/2/31	0.030	0.029	0/0/9	0.000	0.000	0.024

^aGenotypes: homozygous/heterozygous/wild type. The numbering of cDNA and amino acids corresponds to SIAE transcript: ENST00000263593.7.