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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.