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Report for Mutation E161K

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Sodium Channel Splicing in Heart Failure Trial

The purpose of this research is to see if investigators can detect truncated mRNA splice variants of the cardiac voltage-gated sodium (Na+) channel gene, SCN5A, in patients with a weak heart (Heart Failure) with or without an implantable cardioverter-defibrillator (ICD) and compare them to patients with a normal heart. Hypothesis: 1. Patients with reduced left ventricular ejection fraction have increased abundances truncated mRNA splice variants of the SCN5A gene, which portends to sodium channel dysfunction and an increased risk for sudden cardiac death. 2. Patients with implantable cardioverter-defibrillator devices (ICDs) who have experienced shock therapy have increased abundances of truncated mRNA splice variants of the SCN5A gene compared to similar congestive heart failure patients who have not experienced shock therapy.

NCT01185587 Atrial Fibrillation Atrial Flutter Heart Failure
MeSH:Heart Failure Atrial Fibrillation Atrial Flutter
HPO:Atrial fibrillation Atrial flutter Congestive heart failure Left ventricular dysfunction Paroxysmal atrial fibrillation Right ventricular failure

A different SCN5A gene abnormality, the E161K mutation, has been shown to lead to decreased sodium current density and a an 11.9 mV positive shift in the cell membrane half-maximal activation potential.11 --- E161K ---

Primary Outcomes

Description: We will correlate the amount of white cell Na+ channel splice variants with ejection fraction in patients with an without heart failure and with the number of shocks in the patients with ICDs.

Measure: Amount of sodium channel splice variants

Time: At enrollment

Secondary Outcomes

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: ACE mRNA

Time: At enrollment

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: Ang II mRNA

Time: At enrollment

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: HIF-1α mRNA

Time: At enrollment


HPO Nodes


HP:0001635: Congestive heart failure
Genes 260
TRNF TF JUP TPM1 EPG5 EPAS1 DNAJC19 PHYH LMNA ND5 TCF4 ATXN7 TRNS2 VCL EYA4 TAZ NDUFAF1 ABCC6 BSCL2 NDUFAF3 MYH7 TTN SCN5A VPS33A SLC25A3 TRNL1 AGPAT2 TNNI3 COX3 MYH7 LIMK1 PRKAG2 SCO2 TBL2 MYSM1 ENG TRNS1 TNNI3K DMD KIF1B DES COG7 GBA JUP BAG3 MST1 TRNF TRNL1 PSMB8 SLC2A10 TMEM43 VHL HADHA SCN1B CDH23 MYH7 PPA2 MDH2 PTEN MYLK2 SGCD CLIC2 LDB3 IKBKG CLIC2 ACAD9 PRKAR1A TMEM70 TRNW HBA1 ND1 DES CYTB SDHB NSMCE2 HBB CAV3 TPI1 HFE COX2 CASR PEX7 AFF4 MECP2 CEP19 SURF1 EFEMP2 TRIP4 SF3B1 SDHC CLIP2 TNNT2 HNRNPA2B1 NDUFB11 FOS ADCY5 EYA4 CP TMEM127 ATP5F1A CACNA1S ELAC2 ND1 TRNQ ACTC1 SLC25A26 HAMP DLST NDUFB8 ADCY5 SMAD4 TRPM4 STAT1 TMEM127 DSP CAV1 SDHD HADHA TRNK FBLN5 TRNS1 FGD1 ALMS1 COX2 ENPP1 HNRNPA1 TUBB RAB3GAP2 TRNK MYL3 FLNA HLA-DRB1 RASA1 ADAMTSL2 GLA RET VHL SELENON SDHB PRKAR1A SLC25A11 CYTB TRNV LMNA LMNA SDHAF2 ACVRL1 GLA GNPTAB PSEN1 BMP2 TRNL1 GDF2 ALMS1 FBN1 DSP HADHB STRADA PNPLA2 SNAP29 PSMB8 GTF2I SDHD TRNW COX3 GJA1 MYH6 BCHE LMNA MYD88 NDUFS2 TRNH ATP6V1A COX1 FH DTNA HBA2 GATAD1 PSEN2 FGFR3 HFE LMNA GLB1 RPS19 FXN GPR35 AGGF1 ND5 SDHD ND4 KCNJ5 TRNQ TRNS2 CAV1 HADHB TRIM37 ELN TET2 KIF1B RBM20 COL1A2 LMNA COX1 RYR1 CAVIN1 CCR6 SCN4A PPARG FLNC BAZ1B CCN2 MYH7 HJV MAX LMNA VHL IRF5 ABCC6 SLC22A5 RET MYPN MYH7 PPARG WRN PLN COL1A1 TRNE MAPRE2 GTPBP3 ACAD9 VCP SLC17A5 SDHB RFC2 GTPBP3 SLC19A2 PLOD1 RET SDHA TTN ND6 DSP LMNA MAX IDS FGF23 ND6 GDNF PRDM16 IFIH1 NKX2-5 XYLT1 XYLT2 ENG GTF2IRD1 GNPTAB TRNC TRNK PRKAR1A GNA11
SNP 0