ABCMdb

ABCB4 p.Ile162Lys

Predicted by SNAP2:	A: D (53%), C: N (57%), D: D (80%), E: D (75%), F: N (53%), G: D (75%), H: D (75%), K: D (80%), L: N (57%), M: N (97%), N: D (71%), P: D (71%), Q: D (66%), R: D (75%), S: D (66%), T: D (66%), V: N (93%), W: D (63%), Y: D (66%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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Publications
[hide] Correlation between mutation of MDR3 gene exon 6 a... Exp Ther Med. 2014 Nov;8(5):1655-1659. Epub 2014 Sep 19. Yang XF, Liu GS, Yi B
Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition-associated cholestasis of preterm infants.
Exp Ther Med. 2014 Nov;8(5):1655-1659. Epub 2014 Sep 19., [PMID:25289076]

Abstract [show]
The aim of this study was to investigate the association between the mutation of multidrug resistance 3 (MDR3) exon 6 and parenteral nutrition-associated cholestasis (PNAC) in preterm infants. A total of 41 preterm infants with PNAC formed the experimental group, and 56 preterm infants receiving total parenteral nutrition (TPN) for >14 days but without cholestasis formed the control group. Genomic DNA was extracted from peripheral venous blood leukocytes. Polymerase chain reaction was used to amplify exon 6 of the MDR3 gene. The target band of MDR3 gene exon 6 was identified in all blood samples from all cases. We identified five cases with C. 504 C>T heterozygous mutations of exon 6 of the MDR3 gene and 14 cases with C. 504 C>T homozygous mutations in the experimental group. In the control group, we identified seven cases with the C. 504 C>T homozygous mutation and six cases with the C. 504 C>T heterozygous mutation. The distribution of the T/C allele frequency of C. 504 in exon 6 of the MDR3 gene between the experimental group and control group was statistically significant (P<0.05). Further analysis revealed the odds ratio of the T/C allele frequency of the C. 504 mutation in exon 6 of the MDR3 gene between the experimental group and control group to be 0.316. Point mutation C. 485 T>A was detected in one case in the experimental group. The C. 504 C>T and C. 485 T>A MDR3 mutations in exon 6 are possibly responsible for the development of PNAC in infants. C. 504 C>T may not be the only risk factor of neonatal PNAC. In order to further confirm the association between exon 6 of the MDR3 gene and PNAC, a large-sample multicenter study should be carried out.

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No. Sentence Comment
79 In addition, DNA sequencing revealed a further single nucleotide substitution in exon 6: C. 485 T>A (P. Ile 162 Lys) in 1/41 premature infants in the experimental group, which was a missense mutation (Fig. 3). Login to comment
93 Mutation position, GAAAAAGGA; nucleic acid position, C. 485T>A; protein position, P. Ile 162 Lys, missense mutation. Login to comment