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Article

The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.

Archives of biochemistry and biophysics - 1 Jul 2016

van Dijk Sabine J, Bezold Kooiker Kristina, Mazzalupo Stacy, Yang Yuanzhang, Kostyukova Alla S, Mustacich Debbie J, Hoye Elaine R, Stern Joshua A, Kittleson Mark D, Harris Samantha P

Abstract excerpt

Mutations in MYBPC3, the gene encoding cardiac myosin binding protein C (cMyBP-C), are a major cause of hypertrophic cardiomyopathy (HCM). While most mutations encode premature stop codons, missense mutations causing single amino acid substitutions are also common. Here we investigated effects of a single proline for alanine substitution at amino acid 31 (A31P) in the C0 domain of cMyBP-C, which was identified as...

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Source

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Identifiers

PMID: 26777460
DOI: 10.1016/j.abb.2016.01.006
PMCID: PMC5843467

Genes

MYBPC3

Provenance

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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