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Article

Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteome.

Human mutation - 1 Oct 2017

Mohanasundaram Kaavya A, Grover Mani P, Crowley Tamsyn M, Goscinski Andrzej, Wouters Merridee A

Abstract excerpt

We assessed the impact of disease mutations (DMs) versus polymorphisms (PYs) in coiled-coil (CC) domains in UniProt by modeling the structural and functional impact of variants in silico with the CC prediction program Multicoil. The structural impact of variants was evaluated with respect to three main metrics: the oligomerization score-to determine whether the variant is stabilizing or destabilizing-the...

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PMID: 28489284
DOI: 10.1002/humu.23252

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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