Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.

BMC medical genetics - 10 Aug 2012

Rani Deepa Selvi, Nallari Pratibha, Priyamvada Singh, Narasimhan Calambur, Singh Lalji, Thangaraj Kumarasamy

Abstract excerpt

BACKGROUND: Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7%) in this gene had been reported in hypertrophic cardiomyopathy patients (HCM). However, the frequencies of mutations and associated clinical presentation have not been established in cardiomyopathy patients of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arginine
Share to Cardiomyopathy, Hypertrophic

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

Share to Death, Sudden, Cardiac

Share to Glutamine

Share to Introns

Share to Prevalence

Share to Troponin I

Source

Open in PubMed Open full text

Identifiers

PMID: 22876777
DOI: 10.1186/1471-2350-13-69
PMCID: PMC3495047

Genes

TNNI3
GAA

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.PMID 22876777Read ↗

An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.Semantic proximity Read ↗

Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).Semantic proximity Read ↗

Cardiac Troponin T (TNNT2) mutations are less prevalent in Indian hypertrophic cardiomyopathy patients.Semantic proximity Read ↗

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathySemantic proximity Read ↗

Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.Semantic proximity Read ↗

Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy.Semantic proximity Read ↗

Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated CardiomyopathySemantic proximity Read ↗

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.Semantic proximity Read ↗

Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.