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Article

Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.

The Journal of biological chemistry - 5 Apr 2002

Lang Rosalyn, Gomes Aldrin V, Zhao Jiaju, Housmans Philippe R, Miller Todd, Potter James D

Abstract excerpt

Familial hypertrophic cardiomyopathy has been associated with several mutations in the gene encoding human cardiac troponin I (HCTnI). A missense mutation in the inhibitory region of TnI replaces an arginine residue at position 145 with a glycine and cosegregates with the disease. Results from several assays indicate that the inhibitory function of HCTnI(R145G) is significantly reduced. When HCTnI(R145G) was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11801593
DOI: 10.1074/jbc.M108912200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.PMID 11801593Read ↗

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