MYH7 c.5533C>T ;(p.R1845W)

Variant ID: 14-23884230-G-A

NM_000257.2(MYH7):c.5533C>T;(p.R1845W)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYH7: 5533C>T; Arg1845Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase.

Disease Models & Mechanisms
Dahl-Halvarsson, Martin M; Olive, Montse M; Pokrzywa, Malgorzata M; Norum, Michaela M; Ejeskär, Katarina K; Tajsharghi, Homa H
Publication Date: 2020-12-29

Variant appearance in text: MYH7: R1845W
PubMed Link: 33234710
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Arg1845Trp
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MYH7: 5533C>T; Arg1845Trp; rs28933098
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: Arg1845Trp
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Bmc Medical Genetics
Bánfai, Zsolt Z; Hadzsiev, Kinga K; Pál, Endre E; Komlósi, Katalin K; Melegh, Márton M; Balikó, László L; Melegh, Béla B
Publication Date: 2017-09-19

Variant appearance in text: MPD1: R1845W
PubMed Link: 28927399
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Orphanet Journal Of Rare Diseases
Harris, Elizabeth E; Topf, Ana A; Barresi, Rita R; Hudson, Judith J; Powell, Helen H; Tellez, James J; Hicks, Debbie D; Porter, Anna A; Bertoli, Marta M; Evangelista, Teresinha T; Marini-Betollo, Chiara C; Magnússon, Ólafur Ó; Lek, Monkol M; MacArthur, Daniel D; Bushby, Kate K; Lochmüller, Hanns H; Straub, Volker V
Publication Date: 2017-09-06

Variant appearance in text: MYH7: Arg1845Trp
PubMed Link: 28877744
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_699.pdf
View BVdb publication page



Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.

Plos One
Dahl-Halvarsson, Martin M; Pokrzywa, Malgorzata M; Rauthan, Manish M; Pilon, Marc M; Tajsharghi, Homa H
Publication Date: 2017

Variant appearance in text: MYH7: R1845W
PubMed Link: 28125727
Variant Present in the following documents:
  • Main text
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: rs28933098
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: R1845W
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: R1845W
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: MYH7: 5533C>T
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Myosinopathies: pathology and mechanisms.

Acta Neuropathologica
Tajsharghi, Homa H; Oldfors, Anders A
Publication Date: 2013-01

Variant appearance in text: MYH7: R1845W
PubMed Link: 22918376
Variant Present in the following documents:
  • Main text
  • 401_2012_Article_1024.pdf
View BVdb publication page



Actinopathies and myosinopathies.

Brain Pathology (Zurich, Switzerland)
Goebel, Hans H HH; Laing, Nigel G NG
Publication Date: 2009-07

Variant appearance in text: MYH7: Arg1845Trp
PubMed Link: 19563543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Armel, Thomas Z TZ; Leinwand, Leslie A LA
Publication Date: 2009-04-14

Variant appearance in text: MYH7: R1845W
PubMed Link: 19336582
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thick and thin filament gene mutations in striated muscle diseases.

International Journal Of Molecular Sciences
Tajsharghi, Homa H
Publication Date: 2008-06

Variant appearance in text: MYH7: Arg1845Trp
PubMed Link: 19325803
Variant Present in the following documents:
  • Main text
  • ijms-9-7-1259.pdf
View BVdb publication page



Thick and thin filament gene mutations in striated muscle diseases.

International Journal Of Molecular Sciences
Tajsharghi, Homa H
Publication Date: 2008-06

Variant appearance in text: MYH7: Arg1845Trp
PubMed Link: 19325803
Variant Present in the following documents:
  • Main text
  • ijms-9-7-1259.pdf
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: R1845W
PubMed Link: 18555187
Variant Present in the following documents:
  • Main text
View BVdb publication page



X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

American Journal Of Human Genetics
Quinzii, Catarina M CM; Vu, Tuan H TH; Min, K Christopher KC; Tanji, Kurenai K; Barral, Sandra S; Grewal, Raji P RP; Kattah, Andrea A; Camaño, Pilir P; Otaegui, David D; Kunimatsu, Teruhito T; Blake, David M DM; Wilhelmsen, Kirk C KC; Rowland, Lewis P LP; Hays, Arthur P AP; Bonilla, Eduardo E; Hirano, Michio M
Publication Date: 2008-01

Variant appearance in text: MYH7: R1845W
PubMed Link: 18179901
Variant Present in the following documents:
  • Main text
View BVdb publication page