DMD c.28T>A ;(p.C10S)

Variant ID: X-33229402-A-T

NM_004006.2(DMD):c.28T>A;(p.C10S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.

Proteins
Singh, Surinder M SM; Molas, Justine F JF; Kongari, Narsimulu N; Bandi, Swati S; Armstrong, Geoffrey S GS; Winder, Steve J SJ; Mallela, Krishna M G KM
Publication Date: 2012-05

Variant appearance in text: DMD: C10S
PubMed Link: 22275054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Singh, Surinder M SM; Kongari, Narsimulu N; Cabello-Villegas, Javier J; Mallela, Krishna M G KM
Publication Date: 2010-08-24

Variant appearance in text: DMD: C10S
PubMed Link: 20696926
Variant Present in the following documents:
  • Main text
View BVdb publication page