MYH7 c.3577C>A ;(p.R1193S)

Variant ID: 14-23889203-G-T

NM_000257.2(MYH7):c.3577C>A;(p.R1193S)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Post-translational modification patterns on β-myosin heavy chain are altered in ischemic and nonischemic human hearts.

Elife
Landim-Vieira, Maicon M; Childers, Matthew C MC; Wacker, Amanda L AL; Garcia, Michelle Rodriquez MR; He, Huan H; Singh, Rakesh R; Brundage, Elizabeth A EA; Johnston, Jamie R JR; Whitson, Bryan A BA; Chase, P Bryant PB; Janssen, Paul M L PML; Regnier, Michael M; Biesiadecki, Brandon J BJ; Pinto, J Renato JR; Parvatiyar, Michelle S MS
Publication Date: 2022-05-03

Variant appearance in text: MYH7: R1193S
PubMed Link: 35502901
Variant Present in the following documents:
  • Main text
  • elife-74919.pdf
View BVdb publication page



The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics
Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z
Publication Date: 2020-10

Variant appearance in text: MYH7: 3577C>A; Arg1193Ser
PubMed Link: 32827758
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: MYH7: R1193S
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Molecules And Cells
Cho, Kae Won KW; Lee, Jongsung J; Kim, Youngjo Y
Publication Date: 2016-10

Variant appearance in text: MYH7: R1193S
PubMed Link: 27802374
Variant Present in the following documents:
  • Main text
  • molce-39-10-722.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CMH1: R1193S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYH7: R1193S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: MPD1: R1193S
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
  • BMRI2015-714197.pdf
View BVdb publication page



Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell
Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC
Publication Date: 2014-01

Variant appearance in text: MYH7: R1193S
PubMed Link: 24474197
Variant Present in the following documents:
  • 13238_2013_Article_16.pdf
  • 13238_2013_16_MOESM9_ESM.pdf
View BVdb publication page



Structural basis for myopathic defects engendered by alterations in the myosin rod.

Journal Of Molecular Biology
Cammarato, Anthony A; Li, Xiaochuan Edward XE; Reedy, Mary C MC; Lee, Chi F CF; Lehman, William W; Bernstein, Sanford I SI
Publication Date: 2011-12-09

Variant appearance in text: MYH7: R1193S
PubMed Link: 22037585
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine
Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R
Publication Date: 2008-05

Variant appearance in text: MYH7: R1193S
PubMed Link: 18555187
Variant Present in the following documents:
  • Main text
View BVdb publication page