Details of mutation TMEM43:S358L

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
TMEM43S358Lc.1073C>Tp.Ser358Leu123p25MissensePathogenic145Affect protein functionPossibly damagingTransmembrane 3  TMEM43_00024

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Bao et al. Circulation Cardiovascular Genetics 2013;6:552-6. Article details 0/600 TFC+  
Baskin et al. Human Genetics 2013;132:1245-1252. Article details 0/0 TFC+, N=6 1 patient: the mutation is de novo
Bhonsale et al. Circ Arrhythm Electrophysiol. 2013;6:569-578. Article details 0/0    
Hodgkinson et al. Clinical Genetics 2013;83:321-31. Article details 0/0 TFC+ (original criteria McKenna et al. 1994) See Merner et al., 2008 (15 families from Newfounland, N=258 affected subjects)
Perrin et al. Journal of the Amercian College of Cardiology 2013;62:1772-79. Article details 0/0 TFC+, age 48, asymptomatic  
Rajkumar et al. BMC medical genetics 2012;13:21. Article details 0/0   TMEM43 S358L exhibits normal cellular localization and does not disrupt integrity and localization of other nuclear envelope and desmosomal proteins. The pathogenetic role of TMEM43 mutations in ARVC remains uncertain.
Christensen et al. Clinical Genetics 2011;80:256-64. Article details 0/1300 TFC+ Reduced immunoreactive signal for plakoglobin
Merner et al. American Journal of Human Genetics 2008;82:809-21. Article details 0/322 Modified TFC+ (Hamid et al. JACC 2002)113From 15 families from Newfoundland
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SNP reports

No SNP reports found.