TTN c.748C>A ;(p.P250T)

Variant ID: 2-179664380-G-T

NM_001267550.1(TTN):c.748C>A;(p.P250T)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Structural basis for cannabinoid-induced potentiation of alpha1-glycine receptors in lipid nanodiscs.

Nature Communications
Kumar, Arvind A; Kindig, Kayla K; Rao, Shanlin S; Zaki, Afroditi-Maria AM; Basak, Sandip S; Sansom, Mark S P MSP; Biggin, Philip C PC; Chakrapani, Sudha S
Publication Date: 2022-08-18

Variant appearance in text: TMD: P250T
PubMed Link: 35982060
Variant Present in the following documents:
  • 41467_2022_Article_32594.pdf
View BVdb publication page



Exploring the Conformational Impact of Glycine Receptor TM1-2 Mutations Through Coarse-Grained Analysis and Atomistic Simulations.

Frontiers In Molecular Biosciences
Mhashal, Anil Ranu AR; Yoluk, Ozge O; Orellana, Laura L
Publication Date: 2022

Variant appearance in text: TMD: P250T
PubMed Link: 35836931
Variant Present in the following documents:
  • Main text
  • fmolb-09-890851.pdf
View BVdb publication page



Mutational analysis to explore long-range allosteric couplings involved in a pentameric channel receptor pre-activation and activation.

Elife
Lefebvre, Solène N SN; Taly, Antoine A; Menny, Anaïs A; Medjebeur, Karima K; Corringer, Pierre-Jean PJ
Publication Date: 2021-09-30

Variant appearance in text: TMD: P250T
PubMed Link: 34590583
Variant Present in the following documents:
  • Main text
  • elife-60682.pdf
View BVdb publication page



Mechanisms of activation and desensitization of full-length glycine receptor in lipid nanodiscs.

Nature Communications
Kumar, Arvind A; Basak, Sandip S; Rao, Shanlin S; Gicheru, Yvonne Y; Mayer, Megan L ML; Sansom, Mark S P MSP; Chakrapani, Sudha S
Publication Date: 2020-07-27

Variant appearance in text: TMD: P250T
PubMed Link: 32719334
Variant Present in the following documents:
  • 41467_2020_Article_17364.pdf
View BVdb publication page



Impaired Glycine Receptor Trafficking in Neurological Diseases.

Frontiers In Molecular Neuroscience
Schaefer, Natascha N; Roemer, Vera V; Janzen, Dieter D; Villmann, Carmen C
Publication Date: 2018

Variant appearance in text: TMD: P250T
PubMed Link: 30186111
Variant Present in the following documents:
  • Main text
  • fnmol-11-00291.pdf
View BVdb publication page



The dual-gate model for pentameric ligand-gated ion channels activation and desensitization.

The Journal Of Physiology
Gielen, Marc M; Corringer, Pierre-Jean PJ
Publication Date: 2018-05-15

Variant appearance in text: TMD: P250T
PubMed Link: 29484660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystal structure and dynamics of a lipid-induced potential desensitized-state of a pentameric ligand-gated channel.

Elife
Basak, Sandip S; Schmandt, Nicolaus N; Gicheru, Yvonne Y; Chakrapani, Sudha S
Publication Date: 2017-03-06

Variant appearance in text: TMD: P250T
PubMed Link: 28262093
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Intracellular Loop of the Glycine Receptor: It's not all about the Size.

Frontiers In Molecular Neuroscience
Langlhofer, Georg G; Villmann, Carmen C
Publication Date: 2016

Variant appearance in text: TMD: P250T
PubMed Link: 27330534
Variant Present in the following documents:
  • Main text
  • fnmol-09-00041.pdf
View BVdb publication page



Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Moraga-Cid, Gustavo G; Sauguet, Ludovic L; Huon, Christèle C; Malherbe, Laurie L; Girard-Blanc, Christine C; Petres, Stéphane S; Murail, Samuel S; Taly, Antoine A; Baaden, Marc M; Delarue, Marc M; Corringer, Pierre-Jean PJ
Publication Date: 2015-03-03

Variant appearance in text: TMD: P250T
PubMed Link: 25730860
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of human hyperekplexia mutations on glycine receptor structure and function.

Molecular Brain
Bode, Anna A; Lynch, Joseph W JW
Publication Date: 2014-01-09

Variant appearance in text: TMD: P250T
PubMed Link: 24405574
Variant Present in the following documents:
  • 1756-6606-7-2.pdf
View BVdb publication page



β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.

Plos One
Shan, Qiang Q; Han, Lu L; Lynch, Joseph W JW
Publication Date: 2011

Variant appearance in text: TMD: P250T
PubMed Link: 22132222
Variant Present in the following documents:
  • Main text
  • pone.0028105.pdf
View BVdb publication page