SMN1 c.389A>G ;(p.Y130C)

Variant ID: 5-70238300-A-G

NM_000344.3(SMN1):c.389A>G;(p.Y130C)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


The TUDOR domain of SMN is an H3K79me1 histone mark reader.

Life Science Alliance
Binda, Olivier O; Kimenyi Ishimwe, Aimé Boris AB; Galloy, Maxime M; Jacquet, Karine K; Corpet, Armelle A; Fradet-Turcotte, Amélie A; Côté, Jocelyn J; Lomonte, Patrick P
Publication Date: 2023-06

Variant appearance in text: SMA: Y130C
PubMed Link: 36882285
Variant Present in the following documents:
  • LSA-2022-01752.pdf
View BVdb publication page



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: SMN1: 389A>G; Tyr130Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.

Life Science Alliance
Binda, Olivier O; Juillard, Franceline F; Ducassou, Julia Novion JN; Kleijwegt, Constance C; Paris, Geneviève G; Didillon, Andréanne A; Baklouti, Faouzi F; Corpet, Armelle A; Couté, Yohann Y; Côté, Jocelyn J; Lomonte, Patrick P
Publication Date: 2023-01

Variant appearance in text: SMA: Y130C
PubMed Link: 36375840
Variant Present in the following documents:
  • LSA-2022-01429.pdf
View BVdb publication page



Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications
Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL
Publication Date: 2020

Variant appearance in text: SMN1: 389A>G; Y130C
PubMed Link: 32954327
Variant Present in the following documents:
  • fcaa075_supplementary_data.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: SMN1: 389A>G; Tyr130Cys
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: SMN1: 389A>G; Tyr130Cys
PubMed Link: 32827758
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY: Bergamo, ItalyJune 05-08, 2019.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Publication Date: 2019-06

Variant appearance in text: SMA: 389A>G
PubMed Link: 31309183
Variant Present in the following documents:
  • am-2019-02-45.pdf
View BVdb publication page



Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Human Genetics
Ruhno, Corey C; McGovern, Vicki L VL; Avenarius, Matthew R MR; Snyder, Pamela J PJ; Prior, Thomas W TW; Nery, Flavia C FC; Muhtaseb, Abdurrahman A; Roggenbuck, Jennifer S JS; Kissel, John T JT; Sansone, Valeria A VA; Siranosian, Jennifer J JJ; Johnstone, Alec J AJ; Nwe, Pann H PH; Zhang, Ren Z RZ; Swoboda, Kathryn J KJ; Burghes, Arthur H M AHM
Publication Date: 2019-03

Variant appearance in text: SMA: 389A>G; rs397514517
PubMed Link: 30788592
Variant Present in the following documents:
  • Main text
View BVdb publication page



How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

Plos One
Li, Wei W
Publication Date: 2017

Variant appearance in text: SMN1: Y130C
PubMed Link: 28570645
Variant Present in the following documents:
  • pone.0178519.s002.pdf
View BVdb publication page



Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Jama Neurology
Ripolone, Michela M; Ronchi, Dario D; Violano, Raffaella R; Vallejo, Dionis D; Fagiolari, Gigliola G; Barca, Emanuele E; Lucchini, Valeria V; Colombo, Irene I; Villa, Luisa L; Berardinelli, Angela A; Balottin, Umberto U; Morandi, Lucia L; Mora, Marina M; Bordoni, Andreina A; Fortunato, Francesco F; Corti, Stefania S; Parisi, Daniela D; Toscano, Antonio A; Sciacco, Monica M; DiMauro, Salvatore S; Comi, Giacomo P GP; Moggio, Maurizio M
Publication Date: 2015-06

Variant appearance in text: SMA: 389A>G
PubMed Link: 25844556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Nature Reviews. Neuroscience
Burghes, Arthur H M AH; Beattie, Christine E CE
Publication Date: 2009-08

Variant appearance in text: SMA: Y130C
PubMed Link: 19584893
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.

Results And Problems In Cell Differentiation
Rossoll, Wilfried W; Bassell, Gary J GJ
Publication Date: 2009

Variant appearance in text: SMA: Y130C
PubMed Link: 19343312
Variant Present in the following documents:
  • Main text
View BVdb publication page