Table 2. Observed genetic variants in the PSIP1 coding region.

dbSNP rs number	HGVS name	SNP location	African		Caucasian		Amino acid change	SIFT score	POLYPHEN score
	NM_033222.3		MAF exp	MAF obs	MAF exp	MAF obs
rs2821529	c.348T>C	Exon2	0,169	0,107	0,042	0,039	S116S	-	-
rs139433616	c.402T>C	Exon5	NA	0,000	NA	0,002	T134T	-	-
rs188943134	c.743C>T	Exon8	NA	0,000	NA	0,002	P248L	0,18	0,045
rs61744944	c.1415A>T	Exon13	0,034	0,059	NA	0,002	Q472L	0,01	0,007
rs35678110	c.1432C>G	Exon14	0,025	0,000	NA	0,004†	L478V	0,21	0,049

^†signifies variants not in accordance with Hardy Weinberg law.

Overview of the observed SNPs in the PSIP1 coding region for LEDGF/p75. Both expected and observed minor allele frequencies (MAF) are shown per ethnicity. The SIFT score ranges from 0 to 1. The amino acid substitution is predicted as damaging if the score is < = 0.05, and tolerated if the score is >0.05. The POLYPHEN score ranges from 0.00 to ≥2.00. The amino acid substitution is predicted possibly damaging if the score is ≥1.50 and probably damaging if the score is ≥2.00.

HGVS = Human Genomic Variation Society; SNP = single nucleotide polymorphism; MAF = minor allele frequency; NA = not assessed; rs = referenced SNP id number; – means no impact due to silent mutation.