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Table 1 Frequency of genetic variations screened or identified in this study

From: Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13mutations among thai infants

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
  1. AF allele frequency, Cholestatic infants, idiopathic infantile cholestasis individuals, hom homozygous, het heterozygous, NA not applicable/available, Pt patient. GenBank reference sequences were NT_079595 and NM_014251.2.
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BMC Gastroenterology

ISSN: 1471-230X

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