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 |