Table 2 Review of mutations reported in the FAN1 gene
From: New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
References | Ethnic origin | Nucleotide alteration | Deduced protein change | Exon/intron (state) | Parental consan-guinity |
|---|---|---|---|---|---|
Zhou et al. [4] | French | c.1234 + 2T>A c.2036_7delGA | Splice site p.Arg679Thrfs*5 | 2 (het) 7 (het) | No |
Zhou et al. [4] | French | c.1234 + 2T>A c.2245C>T | Splice site p.Arg749* | 2 (het) 9 (het) | No |
Zhou et al. [4] | French | c.1375 + 1G>A c.2616delA | Splice site p.Asp873Thrfs*17 | 3 (het) 12 (het) | No |
Zhou et al. [4] | German | c.1606C>T c.2786A>C | p.Arg536* p.Gln929Pro | 5 (het) 12 (het) | No |
Zhou et al. [4] | German | c.1606C>T c.2878G>A | p.Arg536* p.Asp960Asn | 5 (het) 13 (het) | No |
Zhou et al. [4] | New Zealand Maori | c.2120G>A | p.Trp707* | 8 (hom) | distant? |
Zhou et al. [4] | Spanish | c.2616delA | p.Asp873Thrfs*17 | 12 (hom) | No |
Zhou et al. [4] | Swiss | c.2611T>C c.2878G>A | p.Cys871Arg p.Asp960Asn | 12 (het) 13 (het) | No |
Zhou et al. [4] | USA | c.2774_5delTT c.2810G>A | p.Leu925Profs*25 p.Gly937Asp | 12 (het) 13 (het) | No |
Isnard et al. [3] | French | c.2616delA | p.Asp873Thrfs*17 | 12 (hom) | ND |
Dash et al. [6] | Bulgarian | c.1102C>T c.2616delA | p.Gln368* p.Asp873Thrfs*17 | 2 (het) 12 (het) | ND |
Koshy et al. [5] | Indian | c.1356T>G c.1369C>T | p.Asn452Lys p.Gln457* | 4(het) 4 (het) | ND |
Present study Family A | Tunisian | c.2616delA | p.Thr872Thrfs*17 | 12 (hom) | Yes |
Present study Family Z | Tunisian | c.2603delT | p.Leu868Argfs*21 | 12(hom) | Yes |