A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis

BMC Medical Genetics

Table 3 The pathogenic mutations predicted by three software for the non-synonymous mutations

Dbsnp144	Position	Transcript Consequence	Protein Consequence	SIFT	Polyphen	MutationTaster
rs201822740	35849646	c.C616A	p.P206T	Damaging	Probably damaging	Disease causing
rs114615449	35845496	c.G1802C	p.G601A	Damaging	Probably damaging	Disease causing
rs115976159	358434987	c.C2309T	p.P770L	Damaging	Possibly damaging	Disease causing
rs114849139	35839554	c.G2869C	p.V957 L	Damaging	Probably damaging	Disease causing
rs199646631	35831655	c.C3274T	p.R1092C	Damaging	Possibly damaging	Disease causing

Three different software are used to predict the likelihood of causing disease: SIFT, Polyphen and MutationTaster

ISSN: 1471-2350