SCN1A c.677C>G ;(p.T226R)

Variant ID: 2-166909379-G-C

NM_001165963.1(SCN1A):c.677C>G;(p.T226R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 677C>G; T226R
PubMed Link: 31001185
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 677C>G; Thr226Arg
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Neurology
Sadleir, Lynette G LG; Mountier, Emily I EI; Gill, Deepak D; Davis, Suzanne S; Joshi, Charuta C; DeVile, Catherine C; Kurian, Manju A MA; , ; Mandelstam, Simone S; Wirrell, Elaine E; Nickels, Katherine C KC; Murali, Hema R HR; Carvill, Gemma G; Myers, Candace T CT; Mefford, Heather C HC; Scheffer, Ingrid E IE
Publication Date: 2017-09-05

Variant appearance in text: SCN1A: Thr226Arg
PubMed Link: 28794249
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2016790519.pdf
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: T226R
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page