PRRT2 c.616A>C ;(p.K206Q)

Variant ID: 16-29824991-A-C

NM_145239.2(PRRT2):c.616A>C;(p.K206Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.

Frontiers In Physiology
Marques, Mayra de A MA; de Oliveira, Guilherme A P GA
Publication Date: 2016

Variant appearance in text: PKC: K206Q
PubMed Link: 27721798
Variant Present in the following documents:
  • Main text
  • fphys-07-00429.pdf
View BVdb publication page



Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.

Archives Of Biochemistry And Biophysics
Cheng, Yuanhua Y; Regnier, Michael M
Publication Date: 2016-07-01

Variant appearance in text: PKC: K206Q
PubMed Link: 26851561
Variant Present in the following documents:
  • Main text
View BVdb publication page



TNNI1, TNNI2 and TNNI3: Evolution, regulation, and protein structure-function relationships.

Gene
Sheng, Juan-Juan JJ; Jin, Jian-Ping JP
Publication Date: 2016-01-15

Variant appearance in text: PKC: K206Q
PubMed Link: 26526134
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel phosphorylation site, Serine 199, in the C-terminus of cardiac troponin I regulates calcium sensitivity and susceptibility to calpain-induced proteolysis.

Journal Of Molecular And Cellular Cardiology
Wijnker, Paul J M PJ; Li, Yuejin Y; Zhang, Pingbo P; Foster, D Brian DB; dos Remedios, Cris C; Van Eyk, Jennifer E JE; Stienen, Ger J M GJ; Murphy, Anne M AM; van der Velden, Jolanda J
Publication Date: 2015-05

Variant appearance in text: PKC: K206Q
PubMed Link: 25771144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited cardiomyopathies caused by troponin mutations.

Journal Of Geriatric Cardiology : Jgc
Lu, Qun-Wei QW; Wu, Xiao-Yan XY; Morimoto, Sachio S
Publication Date: 2013-03

Variant appearance in text: PKC: K206Q
PubMed Link: 23610579
Variant Present in the following documents:
  • Main text
  • jgc-10-01-091.pdf
View BVdb publication page



Myofibrillar remodeling in cardiac hypertrophy, heart failure and cardiomyopathies.

The Canadian Journal Of Cardiology
Machackova, Jarmila J; Barta, Judit J; Dhalla, Naranjan S NS
Publication Date: 2006-09

Variant appearance in text: PKC: K206Q
PubMed Link: 16971981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insulin-like growth factor-binding protein-5 (IGFBP-5): a critical member of the IGF axis.

The Biochemical Journal
Beattie, James J; Allan, Gordon J GJ; Lochrie, Jennifer D JD; Flint, David J DJ
Publication Date: 2006-04-01

Variant appearance in text: PKC: K206Q
PubMed Link: 16526944
Variant Present in the following documents:
  • Main text
View BVdb publication page