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Article

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

PLoS genetics - 1 Dec 2005

Brunham Liam R, Singaraja Roshni R, Pape Terry D, Kejariwal Anish, Thomas Paul D, Hayden Michael R

Abstract excerpt

The human genome contains an estimated 100,000 to 300,000 DNA variants that alter an amino acid in an encoded protein. However, our ability to predict which of these variants are functionally significant is limited. We used a bioinformatics approach to define the functional significance of genetic variation in the ABCA1 gene, a cholesterol transporter crucial for the metabolism of high density lipoprotein...

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Share to Amino Acid Substitution
Share to ATP Binding Cassette Transporter 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cholesterol

Share to Conserved Sequence

Share to DNA, Complementary

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Share to Mutation, Missense

Source

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Identifiers

PMID: 16429166
DOI: 10.1371/journal.pgen.0010083
PMCID: PMC1342637

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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