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Article

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

PloS one - 1 Jan 2016

Molnár János, Szakács Gergely, Tusnády Gábor E

Abstract excerpt

Transmembrane protein coding genes are commonly associated with human diseases. We characterized disease causing mutations and natural polymorphisms in transmembrane proteins by mapping missense genetic variations from the UniProt database on the transmembrane protein topology listed in the Human Transmembrane Proteome database. We found characteristic differences in the spectrum of amino acid changes within...

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PMID: 26986070
DOI: 10.1371/journal.pone.0151760
PMCID: PMC4795776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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