In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.

ABSTRACT:

Background

Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters through decreased expression and/or activity of FXR. Point mutations are the most common, with the majority being missense or nonsense mutations. In addition, approximately 15% of disease-causing ATP8B1 mutations are annotated as splicing disrupting alteration given that they are located at exon-intron borders.

Objective

Here, we describe the hidden layer of computational biology infor

SUBMITTER: M Z 

PROVIDER: S-EPMC6409373 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature