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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
  1. Hom, homozygous; Het, heterozygous; ND, no data