SCN4A c.4298T>G ;(p.L1433R)

Variant ID: 17-62019344-A-C

NM_000334.4(SCN4A):c.4298T>G;(p.L1433R)

This variant was identified in 8 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: SCN4A: 4298T>G; Leu1433Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: HYPP: L1433R
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.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: HYPP: L1433R
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: SCN4A: L1433R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page


Skeletal muscle na channel disorders.

Frontiers In Pharmacology
Simkin, Dina D; Bendahhou, Saïd S
Publication Date: 2011

Variant appearance in text: Nav1.4: L1433R
PubMed Link: 22016737
Variant Present in the following documents:
  • Main text
  • fphar-02-00063.pdf
View BVdb publication page


Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.

Journal Of Clinical Neurology (Seoul, Korea)
Lee, Sang-Chan SC; Kim, Hyang-Sook HS; Park, Yeong-Eun YE; Choi, Young-Chul YC; Park, Kyu-Hyun KH; Kim, Dae-Seong DS
Publication Date: 2009-12

Variant appearance in text: SCN4A: L1433R
PubMed Link: 20076800
Variant Present in the following documents:
  • Main text
  • jcn-5-186.pdf
View BVdb publication page


Movement and crevices around a sodium channel S3 segment.

The Journal Of General Physiology
Nguyen, Thao P TP; Horn, Richard R
Publication Date: 2002-09

Variant appearance in text: Nav1.4: L1433R
PubMed Link: 12198095
Variant Present in the following documents:
  • Main text
  • 20028636.pdf
View BVdb publication page


Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.

The Journal Of General Physiology
Ji, S S; George, A L AL; Horn, R R; Barchi, R L RL
Publication Date: 1996-02

Variant appearance in text: SkM1: L1433R
PubMed Link: 8833340
Variant Present in the following documents:
  • jg1072183.pdf
View BVdb publication page