TTN c.140C>G ;(p.S47C)

Variant ID: 2-179667020-G-C

NM_001267550.1(TTN):c.140C>G;(p.S47C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Ligand recognition and activation of neuromedin U receptor 2.

Nature Communications
Zhao, Wenli W; Zhang, Wenru W; Wang, Mu M; Lu, Minmin M; Chen, Shutian S; Tang, Tingting T; Schnapp, Gisela G; Wagner, Holger H; Brennauer, Albert A; Yi, Cuiying C; Chu, Xiaojing X; Han, Shuo S; Wu, Beili B; Zhao, Qiang Q
Publication Date: 2022-12-27

Variant appearance in text: TMD: S47C
PubMed Link: 36575163
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34814.pdf
View BVdb publication page



Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Science (New York, N.Y.)
Reichart, Daniel D; Lindberg, Eric L EL; Maatz, Henrike H; Miranda, Antonio M A AMA; Viveiros, Anissa A; Shvetsov, Nikolay N; Gärtner, Anna A; Nadelmann, Emily R ER; Lee, Michael M; Kanemaru, Kazumasa K; Ruiz-Orera, Jorge J; Strohmenger, Viktoria V; DeLaughter, Daniel M DM; Patone, Giannino G; Zhang, Hao H; Woehler, Andrew A; Lippert, Christoph C; Kim, Yuri Y; Adami, Eleonora E; Gorham, Joshua M JM; Barnett, Sam N SN; Brown, Kemar K; Buchan, Rachel J RJ; Chowdhury, Rasheda A RA; Constantinou, Chrystalla C; Cranley, James J; Felkin, Leanne E LE; Fox, Henrik H; Ghauri, Ahla A; Gummert, Jan J; Kanda, Masatoshi M; Li, Ruoyan R; Mach, Lukas L; McDonough, Barbara B; Samari, Sara S; Shahriaran, Farnoush F; Yapp, Clarence C; Stanasiuk, Caroline C; Theotokis, Pantazis I PI; Theis, Fabian J FJ; van den Bogaerdt, Antoon A; Wakimoto, Hiroko H; Ware, James S JS; Worth, Catherine L CL; Barton, Paul J R PJR; Lee, Young-Ae YA; Teichmann, Sarah A SA; Milting, Hendrik H; Noseda, Michela M; Oudit, Gavin Y GY; Heinig, Matthias M; Seidman, Jonathan G JG; Hubner, Norbert N; Seidman, Christine E CE
Publication Date: 2022-08-05

Variant appearance in text: TTN: S47C
PubMed Link: 35926050
Variant Present in the following documents:
  • Main text
  • nihms-1835045.pdf
View BVdb publication page



Structural insights into ligand recognition and selectivity of somatostatin receptors.

Cell Research
Zhao, Wenli W; Han, Shuo S; Qiu, Na N; Feng, Wenbo W; Lu, Mengjie M; Zhang, Wenru W; Wang, Mu M; Zhou, Qingtong Q; Chen, Shutian S; Xu, Wei W; Du, Juan J; Chu, Xiaojing X; Yi, Cuiying C; Dai, Antao A; Hu, Liaoyuan L; Shen, Michelle Y MY; Sun, Yaping Y; Zhang, Qing Q; Ma, Yingli Y; Zhong, Wenge W; Yang, Dehua D; Wang, Ming-Wei MW; Wu, Beili B; Zhao, Qiang Q
Publication Date: 2022-08

Variant appearance in text: TMD: S47C
PubMed Link: 35739238
Variant Present in the following documents:
  • Main text
  • 41422_2022_Article_679.pdf
View BVdb publication page



Analysis of transmembrane domains 1 and 4 of the human angiotensin II AT1 receptor by cysteine-scanning mutagenesis.

The Journal Of Biological Chemistry
Yan, Liping L; Holleran, Brian J BJ; Lavigne, Pierre P; Escher, Emanuel E; Guillemette, Gaétan G; Leduc, Richard R
Publication Date: 2010-01-22

Variant appearance in text: TMD: S47C
PubMed Link: 19940150
Variant Present in the following documents:
  • Main text
View BVdb publication page