SMN1 c.275G>C ;(p.W92S)

Variant ID: 5-70238186-G-C

NM_000344.3(SMN1):c.275G>C;(p.W92S)

This variant was identified in 11 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: W92S
PubMed Link: 36882285
Variant Present in the following documents:
  • LSA-2022-01752.pdf
View BVdb publication page



Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes
Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M
Publication Date: 2022-01-24

Variant appearance in text: SMN1: 275G>C
PubMed Link: 35205250
Variant Present in the following documents:
  • Main text
  • genes-13-00205.pdf
View BVdb publication page



High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Italian Journal Of Pediatrics
Zhang, Ruiping R; Gu, Chunyu C; Pu, Linjie L; Meng, Yingtao Y; Shu, Jianbo J; Cai, Chunquan C
Publication Date: 2020-11-04

Variant appearance in text: SMN1: Trp92Ser
PubMed Link: 33148303
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_925.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: 275G>C; W92S
PubMed Link: 32954327
Variant Present in the following documents:
  • fcaa075_supplementary_data.pdf
  • fcaa075.pdf
View BVdb publication page



Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.

Frontiers In Molecular Neuroscience
Spring, Ashlyn M AM; Raimer, Amanda C AC; Hamilton, Christine D CD; Schillinger, Michela J MJ; Matera, A Gregory AG
Publication Date: 2019

Variant appearance in text: SMA: W92S
PubMed Link: 31156382
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: SMA: W92S
PubMed Link: 28570645
Variant Present in the following documents:
  • Main text
  • pone.0178519.s002.pdf
  • pone.0178519.pdf
View BVdb publication page



Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.

Embo Molecular Medicine
Tsuiji, Hitomi H; Iguchi, Yohei Y; Furuya, Asako A; Kataoka, Ayane A; Hatsuta, Hiroyuki H; Atsuta, Naoki N; Tanaka, Fumiaki F; Hashizume, Yoshio Y; Akatsu, Hiroyasu H; Murayama, Shigeo S; Sobue, Gen G; Yamanaka, Koji K
Publication Date: 2013-02

Variant appearance in text: SMN1: W92S
PubMed Link: 23255347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

Bmc Medical Genetics
Yu-Jin, Qu Q; Juan, Du D; Er-zhen, Li L; Jin-li, Bai B; Yu-wei, Jin J; Hong, Wang W; Fang, Song S
Publication Date: 2012-09-20

Variant appearance in text: SMA: Trp92Ser
PubMed Link: 22994313
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-86.pdf
View BVdb publication page



Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.

Brain Research
Workman, Eileen E; Kolb, Stephen J SJ; Battle, Daniel J DJ
Publication Date: 2012-06-26

Variant appearance in text: SMA: W92S
PubMed Link: 22424789
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: W92S
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: W92S
PubMed Link: 19343312
Variant Present in the following documents:
  • Main text
View BVdb publication page