Exon/intron | Genetic variation | Conventional name | Protein change | Pathogenicity | Cholestatic infants (AF) | Controls (AF) | Reference |
---|---|---|---|---|---|---|---|
Exon 1 | 2T>C | NA | p.M1? | unknown | 1/39 (het: Pt-6) (0.013) | 3/100 (0.015) | present study |
Intron 4 | IVS4+6A>G | NA | none | benign | AA 17/39; AG 18/39; GG 4/39 (AF: A 0.67; G 0.33 | NA | rs6957975; ss28503034 |
Intron 4 | IVS4-52 A>G | NA | none | benign | 1/39 (het: Pt-8) (0.013) | NA | present study |
Exon 9 | c.851delGTAT | I | p.M285fsX286 | pathogenic | 5/39 (hom: Pt-1,2,5 and het: Pt-3,4) (0.103) | 0/100 | Kobayashi 1999 [5] |
Exon 12 | c.1194A>G | NA | p.L398L | benign | AA 9/39; AG 12/39; GG 18/39 (AF:A 0.385; G 0.615) | NA | rs2301629 |
Exon 17 | c.1814G>A | NA | p.R605Q | unknown | 1/39 (het: Pt-7) (0.013) | 0/100 | present study |
Exon 16 | c.1638-1660dup (1638ins23) | III | p.A554fsX570 | pathogenic | 1/39 (het: Pt-4) (0.013) | 0/100 | Kobayashi 1999 [5] |
Intron 16 | IVS16ins3kb | XIX | p.A584fsX585 | pathogenic | 1/39 (het: Pt-3) (0.013) | 0/100 | Tabata 2008 [20] |
Intron 17 | IVS17-12 C>A | NA | none | benign | 1/39 (het: Pt-9) (0.013) | NA | present study |