TTN c.160G>C ;(p.V54L)

Variant ID: 2-179667000-C-G

NM_001267550.1(TTN):c.160G>C;(p.V54L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.

Elife
Chiasson, Melissa A MA; Rollins, Nathan J NJ; Stephany, Jason J JJ; Sitko, Katherine A KA; Matreyek, Kenneth A KA; Verby, Marta M; Sun, Song S; Roth, Frederick P FP; DeSloover, Daniel D; Marks, Debora S DS; Rettie, Allan E AE; Fowler, Douglas M DM
Publication Date: 2020-09-01

Variant appearance in text: TMD: V54L
PubMed Link: 32870157
Variant Present in the following documents:
  • elife-58026.pdf
View BVdb publication page



Functional dissection of the conjugative coupling protein TrwB.

Journal Of Bacteriology
de Paz, Héctor D HD; Larrea, Delfina D; Zunzunegui, Sandra S; Dehio, Christoph C; de la Cruz, Fernando F; Llosa, Matxalen M
Publication Date: 2010-06

Variant appearance in text: TMD: V54L
PubMed Link: 20363945
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acetylcholine receptor gating: movement in the alpha-subunit extracellular domain.

The Journal Of General Physiology
Purohit, Prasad P; Auerbach, Anthony A
Publication Date: 2007-12

Variant appearance in text: TMD: V54L
PubMed Link: 18040059
Variant Present in the following documents:
  • jgp1300569.pdf
View BVdb publication page



Gating dynamics of the acetylcholine receptor extracellular domain.

The Journal Of General Physiology
Chakrapani, Sudha S; Bailey, Timothy D TD; Auerbach, Anthony A
Publication Date: 2004-04

Variant appearance in text: TMD: V54L
PubMed Link: 15051806
Variant Present in the following documents:
  • Main text
  • 200309004.pdf
View BVdb publication page