DMD c.515T>A ;(p.L172H)

Variant ID: X-32834600-A-T

NM_004006.2(DMD):c.515T>A;(p.L172H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Dystrophin missense mutations alter focal adhesion tension and mechanotransduction.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ramirez, Maria Paz MP; Anderson, Michael J M MJM; Kelly, Marcus D MD; Sundby, Lauren J LJ; Hagerty, Anthony R AR; Wenthe, Sophia J SJ; Odde, David J DJ; Ervasti, James M JM; Gordon, Wendy R WR
Publication Date: 2022-06-21

Variant appearance in text: DMD: L172H
PubMed Link: 35700360
Variant Present in the following documents:
  • pnas.202205536.pdf
View BVdb publication page



Contraction-Induced Loss of Plasmalemmal Electrophysiological Function Is Dependent on the Dystrophin Glycoprotein Complex.

Frontiers In Physiology
Baumann, Cory W CW; Lindsay, Angus A; Sidky, Sylvia R SR; Ervasti, James M JM; Warren, Gordon L GL; Lowe, Dawn A DA
Publication Date: 2021

Variant appearance in text: DMD: L172H
PubMed Link: 34764884
Variant Present in the following documents:
  • Main text
  • fphys-12-757121.pdf
View BVdb publication page



Rapid, redox-mediated mechanical susceptibility of the cortical microtubule lattice in skeletal muscle.

Redox Biology
Nelson, D'anna M DM; Fasbender, Elizabeth K EK; Jakubiak, Margurite C MC; Lindsay, Angus A; Lowe, Dawn A DA; Ervasti, James M JM
Publication Date: 2020-10

Variant appearance in text: DMD: L172H
PubMed Link: 33002761
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: L172H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Isometric resistance training increases strength and alters histopathology of dystrophin-deficient mouse skeletal muscle.

Journal Of Applied Physiology (Bethesda, Md. : 1985)
Lindsay, Angus A; Larson, Alexie A AA; Verma, Mayank M; Ervasti, James M JM; Lowe, Dawn A DA
Publication Date: 2019-02-01

Variant appearance in text: DMD: L172H
PubMed Link: 30571283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural Interface Forms and Their Involvement in Stabilization of Multidomain Proteins or Protein Complexes.

International Journal Of Molecular Sciences
Dygut, Jacek J; Kalinowska, Barbara B; Banach, Mateusz M; Piwowar, Monika M; Konieczny, Leszek L; Roterman, Irena I
Publication Date: 2016-10-18

Variant appearance in text: DMD: L172H
PubMed Link: 27763556
Variant Present in the following documents:
  • Main text
  • ijms-17-01741.pdf
View BVdb publication page



The Dystrophin Complex: Structure, Function, and Implications for Therapy.

Comprehensive Physiology
Gao, Quan Q QQ; McNally, Elizabeth M EM
Publication Date: 2015-07-01

Variant appearance in text: DMD: L172H
PubMed Link: 26140716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Henderson, Davin M DM; Lee, Ann A; Ervasti, James M JM
Publication Date: 2010-05-25

Variant appearance in text: DMD: L172H
PubMed Link: 20457930
Variant Present in the following documents:
  • Main text
View BVdb publication page