DMD c.494A>T ;(p.D165V)

Variant ID: X-32834621-T-A

NM_004006.2(DMD):c.494A>T;(p.D165V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: D165V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Genes
Alcántara-Ortigoza, Miguel Angel MA; Reyna-Fabián, Miriam Erandi ME; González-Del Angel, Ariadna A; Estandia-Ortega, Bernardette B; Bermúdez-López, Cesárea C; Cruz-Miranda, Gabriela Marisol GM; Ruíz-García, Matilde M
Publication Date: 2019-10-29

Variant appearance in text: DMD: 494A>T; Asp165Val
PubMed Link: 31671740
Variant Present in the following documents:
  • Main text
  • genes-10-00856.pdf
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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: D165V
PubMed Link: 27763556
Variant Present in the following documents:
  • Main text
  • ijms-17-01741.pdf
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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One
Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2015

Variant appearance in text: DMD: Asp165Val
PubMed Link: 26284620
Variant Present in the following documents:
  • Main text
  • pone.0135189.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: D165V
PubMed Link: 26140716
Variant Present in the following documents:
  • Main text
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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: D165V
PubMed Link: 20457930
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid direct sequence analysis of the dystrophin gene.

American Journal Of Human Genetics
Flanigan, Kevin M KM; von Niederhausern, Andrew A; Dunn, Diane M DM; Alder, Jonathan J; Mendell, Jerry R JR; Weiss, Robert B RB
Publication Date: 2003-04

Variant appearance in text: DMD: Asp165Val
PubMed Link: 12632325
Variant Present in the following documents:
  • Main text
View BVdb publication page