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. Author manuscript; available in PMC: 2013 Aug 1.
Published in final edited form as: Kidney Int. 2012 Sep 26;83(2):316–322. doi: 10.1038/ki.2012.349

Table 2.

List of INF2 heterozygous missense mutations by family and in silico protein function prediction according to Polyphen-2 software. Mutations that were found in other families, either in our cohort or published in the literature, are indicated.

Family ID Exon Number Nucleotide Change Amino Acid Change Polyphen-2 Prediction Polyphen-2 Score Found in other cohorts? Previously Reported?
FG-BR 4 c.556T>C p.S186P Probably damaging 0.988 Y Y11
FG-DM 4 c.593T>G p.L198R Probably damaging 0.995 Y Y9
FG-EA 4 c.652C>T p.R218W Probably damaging 1.000 Y Y11
FG-EF 4 c.641G>A p.R214H Probably damaging 1.000 Y Y9,10
FG-EP 2 c.125T>C p.L42P Probably damaging 0.995 N Y11
FG-ER 4 c.556T>C p.S186P Possibly damaging 0.789 Y Y11
FG-FG 4 c.641G>A p.R214H Probably damaging 1.000 Y Y9-11
FG-GY 4 c.550G>A p.E184K Probably damaging 0.999 Y Y10
FG-HT 3 c.472C>G p.H158D Probably damaging 1.000 N N
FG-JN 4 c.653G>A p.R218Q Probably damaging 1.000 Y Y9-11
FG-JY 4 c.640C>T p.R214C Probably damaging 1.000 Y N9,10
FG-KM 2 c.217G>A p.G73S Probably damaging 0.999 N N
FG-KQ 4 c.653G>A p.R218Q Probably damaging 1.000 Y N9-11
FG-LL 4 c.542T>G p.V181G Probably damaging 0.989 N N
FG-LP 4 c.529C>T p.R177C Probably damaging 1.000 N* N9,10
FG-LW 4 c.653G>A p.R218Q Probably damaging 1.000 Y N9-11
FG-LY 3 c.451T>C p.C151R Probably damaging 1.000 N N
FG-ME 4 c.652C>T p.R218W Probably damaging 1.000 Y N9-11
FS-B 4 c.658G>A p.E220K Probably damaging 0.999 N Y9,18
FS-V 2 c.242T>C p.L81P Probably damaging 0.995 N N11

An asterisk (*) indicates that this residue has been mutated in other families with FSGS but to a different amino acid. Families that were reported in our original INF2 discovery paper published in 2009 are also shown.11 Alterations in nucleotide and amino acid sequence are reported using the following NCBI RefSeq accession numbers: INF2 – NM_022489 and NP_071934.

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