ACTG1 c.833C>T ;(p.T278I)

Variant ID: 17-79478104-G-A

NM_001614.3(ACTG1):c.833C>T;(p.T278I)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: ACTG1: 833C>T; Thr278Ile
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

International Journal Of Molecular Sciences
Dawidziuk, Mateusz M; Kutkowska-Kazmierczak, Anna A; Bukowska-Olech, Ewelina E; Jurek, Marta M; Kalka, Ewa E; Guilbride, Dorothy Lys DL; Furmanek, Mariusz Ireneusz MI; Bekiesinska-Figatowska, Monika M; Bal, Jerzy J; Gawlinski, Pawel P
Publication Date: 2022-01-08

Variant appearance in text: ACTG1: 833C>T; Thr278Ile
PubMed Link: 35054877
Variant Present in the following documents:
  • Main text
  • ijms-23-00692.pdf
View BVdb publication page



De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

International Journal Of Molecular Sciences
Dawidziuk, Mateusz M; Kutkowska-Kazmierczak, Anna A; Bukowska-Olech, Ewelina E; Jurek, Marta M; Kalka, Ewa E; Guilbride, Dorothy Lys DL; Furmanek, Mariusz Ireneusz MI; Bekiesinska-Figatowska, Monika M; Bal, Jerzy J; Gawlinski, Pawel P
Publication Date: 2022-01-08

Variant appearance in text: ACTG1: 833C>T; Thr278Ile
PubMed Link: 35054877
Variant Present in the following documents:
  • Main text
  • ijms-23-00692.pdf
View BVdb publication page



Genetic background in late-onset sensorineural hearing loss patients.

Journal Of Human Genetics
Uehara, Natsumi N; Fujita, Takeshi T; Yamashita, Daisuke D; Yokoi, Jun J; Katsunuma, Sayaka S; Kakigi, Akinobu A; Nishio, Shin-Ya SY; Nibu, Ken-Ichi KI; Usami, Shin-Ichi SI
Publication Date: 2022-04

Variant appearance in text: ACTG1: 833C>T; T278I
PubMed Link: 34824372
Variant Present in the following documents:
  • Main text
  • 10038_2021_Article_990.pdf
View BVdb publication page



DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Audiology Research
Sorrentino, Ugo U; Piccolo, Chiara C; Rigon, Chiara C; Brasson, Valeria V; Trevisson, Eva E; Boaretto, Francesca F; Martini, Alessandro A; Cassina, Matteo M
Publication Date: 2021-10-18

Variant appearance in text: DFNA20: 833C>T
PubMed Link: 34698053
Variant Present in the following documents:
  • Main text
  • audiolres-11-00052.pdf
View BVdb publication page



The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics
Usami, Shin-Ichi SI; Nishio, Shin-Ya SY
Publication Date: 2022-04

Variant appearance in text: ACTG1: 833C>T; Thr278Ile; rs28999112
PubMed Link: 34599366
Variant Present in the following documents:
  • 439_2021_2371_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ACTG1: T278I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.

International Journal Of Molecular Sciences
Witjes, Laura L; Van Troys, Marleen M; Verhasselt, Bruno B; Ampe, Christophe C
Publication Date: 2020-04-27

Variant appearance in text: ACTG1: T278I
PubMed Link: 32349449
Variant Present in the following documents:
  • Main text
  • ijms-21-03093.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: ACTG1: 833C>T; Thr278Ile
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.

Molecular Medicine Reports
Lee, Cha Gon CG; Jang, Jahyeon J; Jin, Hyun-Seok HS
Publication Date: 2018-06

Variant appearance in text: ACTG1: Thr278Ile
PubMed Link: 29620237
Variant Present in the following documents:
  • Main text
  • mmr-17-06-7611.pdf
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs28999112
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.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: ACTG1: T278I
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ACTG1: 833C>T; T278I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.

Bmc Genetics
Yuan, Yongyi Y; Gao, Xue X; Huang, Bangqing B; Lu, Jingqiao J; Wang, Guojian G; Lin, Xi X; Qu, Yan Y; Dai, Pu P
Publication Date: 2016-02-01

Variant appearance in text: DFNA20: 833C>T
PubMed Link: 26832775
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_333.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: ACTG1: T278I; rs28999112
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: ACTG1: T278I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Distinct functional interactions between actin isoforms and nonsarcomeric myosins.

Plos One
Müller, Mirco M; Diensthuber, Ralph P RP; Chizhov, Igor I; Claus, Peter P; Heissler, Sarah M SM; Preller, Matthias M; Taft, Manuel H MH; Manstein, Dietmar J DJ
Publication Date: 2013

Variant appearance in text: ACTG1: T278I
PubMed Link: 23923011
Variant Present in the following documents:
  • pone.0070636.pdf
View BVdb publication page



De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Nature Genetics
Rivière, Jean-Baptiste JB; van Bon, Bregje W M BW; Hoischen, Alexander A; Kholmanskikh, Stanislav S SS; O'Roak, Brian J BJ; Gilissen, Christian C; Gijsen, Sabine S; Sullivan, Christopher T CT; Christian, Susan L SL; Abdul-Rahman, Omar A OA; Atkin, Joan F JF; Chassaing, Nicolas N; Drouin-Garraud, Valerie V; Fry, Andrew E AE; Fryns, Jean-Pierre JP; Gripp, Karen W KW; Kempers, Marlies M; Kleefstra, Tjitske T; Mancini, Grazia M S GM; Nowaczyk, Małgorzata J M MJ; van Ravenswaaij-Arts, Conny M A CM; Roscioli, Tony T; Marble, Michael M; Rosenfeld, Jill A JA; Siu, Victoria M VM; de Vries, Bert B A BB; Shendure, Jay J; Verloes, Alain A; Veltman, Joris A JA; Brunner, Han G HG; Ross, M Elizabeth ME; Pilz, Daniela T DT; Dobyns, William B WB
Publication Date: 2012-02-26

Variant appearance in text: ACTG1: 833C>T; Thr278Ile
PubMed Link: 22366783
Variant Present in the following documents:
  • NIHMS474071-supplement-1.pdf
View BVdb publication page



Conformational dynamics of actin: effectors and implications for biological function.

Cytoskeleton (Hoboken, N.J.)
Hild, Gábor G; Bugyi, Beáta B; Nyitrai, Miklós M
Publication Date: 2010-10

Variant appearance in text: ACTG1: T278I
PubMed Link: 20672362
Variant Present in the following documents:
  • Main text
  • cm0067-0609.pdf
View BVdb publication page



Edgetic perturbation models of human inherited disorders.

Molecular Systems Biology
Zhong, Quan Q; Simonis, Nicolas N; Li, Qian-Ru QR; Charloteaux, Benoit B; Heuze, Fabien F; Klitgord, Niels N; Tam, Stanley S; Yu, Haiyuan H; Venkatesan, Kavitha K; Mou, Danny D; Swearingen, Venus V; Yildirim, Muhammed A MA; Yan, Han H; Dricot, Amélie A; Szeto, David D; Lin, Chenwei C; Hao, Tong T; Fan, Changyu C; Milstein, Stuart S; Dupuy, Denis D; Brasseur, Robert R; Hill, David E DE; Cusick, Michael E ME; Vidal, Marc M
Publication Date: 2009

Variant appearance in text: ACTG1: T278I
PubMed Link: 19888216
Variant Present in the following documents:
  • msb200980.pdf
  • msb200980-s1.pdf
View BVdb publication page



In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Human Molecular Genetics
Morín, Matías M; Bryan, Keith E KE; Mayo-Merino, Fernando F; Goodyear, Richard R; Mencía, Angeles A; Modamio-Høybjør, Silvia S; del Castillo, Ignacio I; Cabalka, Jessica M JM; Richardson, Guy G; Moreno, Felipe F; Rubenstein, Peter A PA; Moreno-Pelayo, Miguel Angel MA
Publication Date: 2009-08-15

Variant appearance in text: ACTG1: T278I
PubMed Link: 19477959
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vestibular function in families with inherited autosomal dominant hearing loss.

Journal Of Vestibular Research : Equilibrium & Orientation
Street, Valerie A VA; Kallman, Jeremy C JC; Strombom, Paul D PD; Bramhall, Naomi F NF; Phillips, James O JO
Publication Date: 2008

Variant appearance in text: ACTG1: T278I
PubMed Link: 18776598
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

Journal Of Medical Genetics
van Wijk, E E; Krieger, E E; Kemperman, M H MH; De Leenheer, E M R EM; Huygen, P L M PL; Cremers, C W R J CW; Cremers, F P M FP; Kremer, H H
Publication Date: 2003-12

Variant appearance in text: ACTG1: Thr278Ile
PubMed Link: 14684684
Variant Present in the following documents:
  • Main text
View BVdb publication page