Prevalence and outcomes of polycystic kidney disease in African populations: A systematic review

Table 3 Genetic analysis finding

Gene	Exon/Intron	Nucleotide change	Aminoacid change	Number of patients	Ref.
PKD 1	4	c.496 C>T	p.L166	2	[12]
	5	c.696 T>G	p.C232W	2	[12,13]
	5	c.688 T>G	p.C230G	1	[12]
	5	c.690 C>G	p.C230W	1	[12]
	7	c.1522 T>C	p.C508R	1	[12]
	8	c.1702 G>A	p.A568T	1	[12]
	9	c.1745_1761dup	NA	1	[11]
	15	c.4264 G>A	p.A1422T	1	[12]
	15	c.5577 T>C	p.A1859	1	[12]
	15	c.4495 C>T	p.L1499	2	[12]
	15	NA	p.Q1651X	1	[11]
	15	NA	p.W1666X	1	[11]
	15	NA	c.6575_6581del	1	[11]
	18	c.7290_7291delinsCTGCA	NA	2	[11,14]
	IVS22	c.8161-1 G>A	Likely silent	4	[12]
	IVS42	c.11712+28 C>T	Likely silent	1	[12]
	23	c.8679 C>G	p.S893	1	[12]
	23	c.8715 C>T	p.V2905	1	[12]
	23	c.8748 T>C	p.P2916	2	[12]
	23	c.8522 A>G	p.N2841S	1	[12]
	23	NA	p.Q2824X	1	[11]
	26	c.9397+1_9397+8del	NA	1	[11]
	28	c.9669 G>A	p.T3223	2	[12]
	30	c.3367G>A	p.G1123S	1	[15]
	31	c.10165 G>C	p.E3389Gln	1	[12]
	44	c.12133 A>G	p.I4045V	1	[12]
	45	c.12276 A>G	p.A4092	2	[12,16]
PKD 2	1	c.568 G>A	p.A190T	2	[12]
	1	c.83 G>C	p.A28P	2	[12]
	IVS1	c.596-16 C>T	Likely silent	1	[12]
PKHD1		c.3367G>A	p.G1123S	1	[15]

In bold: New mutation found. NA: Not available.