MYH7 c.751C>A ;(p.H251N)

Variant ID: 14-23900672-G-T

NM_000257.2(MYH7):c.751C>A;(p.H251N)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18

Variant appearance in text: MYH7: H251N
PubMed Link: 37131793
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.15.536999v1.pdf
View BVdb publication page



Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022

Variant appearance in text: MYH7: H251N
PubMed Link: 36225299
Variant Present in the following documents:
  • Main text
  • fphys-13-975076.pdf
View BVdb publication page



Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function.

Elife
Morck, Makenna M MM; Bhowmik, Debanjan D; Pathak, Divya D; Dawood, Aminah A; Spudich, James J; Ruppel, Kathleen M KM
Publication Date: 2022-06-29

Variant appearance in text: MYH7: H251N
PubMed Link: 35767336
Variant Present in the following documents:
  • Main text
  • elife-76805.pdf
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: MYH7: H251N
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences
Hassoun, Roua R; Budde, Heidi H; Mügge, Andreas A; Hamdani, Nazha N
Publication Date: 2021-10-15

Variant appearance in text: MYH7: H251N
PubMed Link: 34681814
Variant Present in the following documents:
  • Main text
  • ijms-22-11154.pdf
View BVdb publication page



To lie or not to lie: Super-relaxing with myosins.

Elife
Nag, Suman S; Trivedi, Darshan V DV
Publication Date: 2021-02-10

Variant appearance in text: MYH7: H251N
PubMed Link: 33565963
Variant Present in the following documents:
  • Main text
  • elife-63703.pdf
View BVdb publication page



To lie or not to lie: Super-relaxing with myosins.

Elife
Nag, Suman S; Trivedi, Darshan V DV
Publication Date: 2021-02-10

Variant appearance in text: MYH7: H251N
PubMed Link: 33565963
Variant Present in the following documents:
  • Main text
  • elife-63703.pdf
View BVdb publication page



The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin.

Science Advances
Sarkar, Saswata S SS; Trivedi, Darshan V DV; Morck, Makenna M MM; Adhikari, Arjun S AS; Pasha, Shaik N SN; Ruppel, Kathleen M KM; Spudich, James A JA
Publication Date: 2020-04

Variant appearance in text: MYH7: H251N
PubMed Link: 32284968
Variant Present in the following documents:
  • Main text
  • aax0069.pdf
View BVdb publication page



Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.

International Journal Of Molecular Sciences
Tsukamoto, Osamu O
Publication Date: 2019-12-28

Variant appearance in text: MYH7: H251N
PubMed Link: 31905684
Variant Present in the following documents:
  • Main text
  • ijms-21-00226.pdf
View BVdb publication page



Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.

The Journal Of Biological Chemistry
Vera, Carlos D CD; Johnson, Chloe A CA; Walklate, Jonathan J; Adhikari, Arjun A; Svicevic, Marina M; Mijailovich, Srboljub M SM; Combs, Ariana C AC; Langer, Stephen J SJ; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA
Publication Date: 2019-11-15

Variant appearance in text: MYH7: H251N
PubMed Link: 31582565
Variant Present in the following documents:
  • Main text
View BVdb publication page



β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.

Nature Communications
Adhikari, Arjun S AS; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Song, Dan D; Kooiker, Kristina B KB; Bernstein, Daniel D; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2019-06-18

Variant appearance in text: MYH7: H251N
PubMed Link: 31213605
Variant Present in the following documents:
  • Main text
  • 41467_2019_10555_MOESM1_ESM.pdf
  • 41467_2019_Article_10555.pdf
View BVdb publication page



SETD3 is an actin histidine methyltransferase that prevents primary dystocia.

Nature
Wilkinson, Alex W AW; Diep, Jonathan J; Dai, Shaobo S; Liu, Shuo S; Ooi, Yaw Shin YS; Song, Dan D; Li, Tie-Mei TM; Horton, John R JR; Zhang, Xing X; Liu, Chao C; Trivedi, Darshan V DV; Ruppel, Katherine M KM; Vilches-Moure, José G JG; Casey, Kerriann M KM; Mak, Justin J; Cowan, Tina T; Elias, Joshua E JE; Nagamine, Claude M CM; Spudich, James A JA; Cheng, Xiaodong X; Carette, Jan E JE; Gozani, Or O
Publication Date: 2019-01

Variant appearance in text: MYH7: H251N
PubMed Link: 30626964
Variant Present in the following documents:
  • Main text
  • nihms-1515852.pdf
View BVdb publication page



Controlling load-dependent kinetics of β-cardiac myosin at the single-molecule level.

Nature Structural & Molecular Biology
Liu, Chao C; Kawana, Masataka M; Song, Dan D; Ruppel, Kathleen M KM; Spudich, James A JA
Publication Date: 2018-06

Variant appearance in text: MYH7: H251N
PubMed Link: 29867217
Variant Present in the following documents:
  • Main text
  • nihms-963495.pdf
View BVdb publication page



Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy.

Science Advances
Kawana, Masataka M; Sarkar, Saswata S SS; Sutton, Shirley S; Ruppel, Kathleen M KM; Spudich, James A JA
Publication Date: 2017-02

Variant appearance in text: MYH7: H251N
PubMed Link: 28246639
Variant Present in the following documents:
  • Main text
  • 1601959.pdf
View BVdb publication page