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.