Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan

Table 3

HGD variants founded in the tested families.

Variant _ ENST00000283871.10					ClinVar	dbSNP ID	Protein prediction			MAF gnomAD (%)
Exon	Chromosome location (GRCh37)	HGVS cDNA	HGVS aa	Variant effect			SIFT	PolyPhen-2	Mutation taster
E6	3 : 120369690	c.365C>T	p.Ala122Val	Missense	Likely pathogenic	rs544956641	Deleterious	Probably damaging	Disease causing	0.005569
E4	3 : 120670469	c.240A>T	p. Gln80His	Missense	Benign	rs2255543	Tolerated	Benign	Polymor-phism	74