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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 3.

List of INF2 heterozygous variants found in sporadic individuals with FSGS and in silico protein function prediction according to Polyphen-2 software. Alterations in nucleotide and amino acid sequence are reported using the following NCBI RefSeq accession numbers: INF2 – NM_022489 and NP_071934.

Affected Individual Exon Number Nucleotide Change Amino Acid Change Polyphen-2 Prediction Polyphen-2 Score Found in other
FG-FU 13 2 c.305_314delTCAGCTGCG p.del102_104VSC N/A N/A No
CPMC 105 2 c.385T>C p.S129P Probably damaging 0.895 No
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