Table 1.

Showing families with VWS and PPS syndromes from Nigeria and Ethiopia, variants found and predicted functional effects on the protein

Families	Country	Diagnosis	DNA mutation1	Protein mutation2	Polyphen/SIFT predictions	1KG/EVS
1	Ethiopia	VWS	c.196A>T	p.Lys66X	Premature stop	0
2	Nigeria	VWS	c.551 T>A	Splice site		0
3	Nigeria	VWS	c.1061-2A>G	Splice site	Changes acceptor site	0
4	Nigeria	VWS	c.752T>C	p.Leu251Pro	Probably damaging/deleterious	0
5	Ethiopia	VWS	c.690T>G	p.Phe230Leu	Probably damaging/tolerated	0
6	Nigeria	PPS	rs121434227Gx>A	p.Arg84His	Probably damaging	0

1KG, 1000 genomes; EVS, exome variant server.

¹NM_006147.2

²NP_006138