Table 2.

Amino acid location, substitutions, and predictions associated with HPRT gene in Saudi Arabian hyperuricemia patients.

Mutation	Location	Amino acid	Type	cDNA position	Sift prediction			Polyphen prediction			SNPnexus (Genetic association database)
					Score	Prediction	Confidence	Score	Prediction	Phenotype	Association	GAD Id	Prevalence in patients
384A>T	Exon 3	Lys103Met	Nonsynonymous	475	0	damaging	high	0.997	damaging	Lesch-Nyhan syndrome	Y	126393	1, 2, 5, 7 & 9
614delTCG	Exon 6	ValAla160AlaSer	Peptide shift	646	N	N	N	N	N	Lesch-Nyhan syndrome	Y	126393	1
615C>G	Exon 6	Val160Val	Synonymous	647	N	N	N	N	N	Lesch-Nyhan syndrome	Y	126393	2, 8
616G>A	Exon 6	Ala161Thr	Nonsynonymous	648	0.08	tolerated	high	0.928	damaging	Lesch-Nyhan syndrome	Y	126393	2, 8
362A>T	Exon 3	Thr96Ser	Nonsynonymous	453	0.92	tolerated	high	0	tolerated	Lesch-Nyhan syndrome	Y	126393	4
613delG	Exon 6	Val160Arg	Frameshift: stop-gain	645	N	N	N	N	N	Lesch-Nyhan syndrome	Y	126393	4, 5
327insT	Exon 3	Ala84Val | Asp	Nonsynonymous|frameshift: stop-gain	418	0.34	tolerated	high	0	tolerated	Lesch-Nyhan syndrome	Y	126393	6
340T>A	Exon 3	Asn88Lys	Nonsynonymous	431	0.15	tolerated	high	0.015	tolerated	Lesch-Nyhan syndrome	Y	126393	6
329insG	Exon 3	Leu85Val | ∗	Nonsynonymous|frameshift: stop-gain	420	0.01	damaging	high	0.505	damaging	Lesch-Nyhan syndrome	Y	126393	1
614T>G	Exon 6	Val160Gly	Nonsynonymous	638	0	damaging	high	0.994	damaging	Lesch-Nyhan syndrome	Y	126393	7
612G/T	Exon 6	Lys159Asn	Nonsynonymous	644	0.3	tolerated	high	0.184	tolerated	Lesch-Nyhan syndrome	Y	126393	9, 10
613G>A	Exon 6	Val160Ile	Nonsynonymous	645	0.11	tolerated	high	0.107	tolerated	Lesch-Nyhan syndrome	Y	126393	9
20 bp deletion	Exons 5 and 6	—	Deletion	—	—	—	—	—	—	—	—	—	1