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Report for Mutation S2808A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure

Heart failure (HF) is a continuously growing public health problem. The study aim to provide novel insights into the role of amino acids in pathogenesis of heart failure, to obtain a better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and clarify the potential value of these markers as targets for heart failure therapy

NCT03590522 Heart Failure Genetic: Ryanodine Receptor 2 gene expression
MeSH: Heart Failure Genetic Diseases, Inborn
HPO: Congestive heart failure Left ventricular dysfunction Right ventricular failure

In support of this hypothesis, mice unable to undergo phosphorylation at RyR2-S2808 (S2808A) were significantly protected against HF and displayed a blunted response to adrenergic stimulation. --- S2808A ---

Primary Outcomes

Description: better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and the role of amino acids in pathogenesis of heart failure

Measure: Decrease cardiac ryanodine Receptor 2 gene expression and change of amino acids levels in patients with heart failure.

Time: Baseline


HPO Nodes


Congestive heart failure
Genes 250
PTEN HJV BAZ1B PEX7 HBA1 ND1 TNNT2 TRIM37 ACAD9 AGPAT2 TRNS1 LMNA EYA4 ND4 MYH7 LMNA RFC2 DSP NDUFAF3 TMEM43 SF3B1 HADHB SLC25A11 COX2 ENG HBA2 CEP19 LMNA TRNQ TRNQ GTF2IRD1 IDS MYL3 MYH7 ATXN7 ND6 HNRNPA1 CACNA1S FLNC XYLT2 EPG5 BSCL2 MYH6 FBN1 TRNK GBA SLC2A10 TRNV COX3 RET PRKAR1A MDH2 TRNK IRF5 MYH7 GPR35 TRNL1 ENG SURF1 STAT1 NSMCE2 SGCD ATP5F1A PLN TUBB PLOD1 CAV3 SLC25A26 SLC19A2 MYD88 GLA TPM1 GNPTAB RBM20 LMNA CDH23 TRNW CLIP2 MYPN TSC1 BMP2 HAMP TRNF ADCY5 LMNA LDB3 TTN ELN ENPP1 CAVIN1 TF MAX ELAC2 NDUFS2 CYTB DES DMD MYLK2 MAX TBL2 HLA-DRB1 ALMS1 PNPLA2 SLC17A5 COG7 SLC22A5 MYH7 PSMB8 SCN1B EYA4 MST1 FH TMEM127 MYH7 ND6 PPARG SDHA MAPRE2 COX1 JUP PSEN2 RASA1 ND5 SLC25A3 LMNA DLST TRNF IFIH1 ADCY5 SDHB SCN4A FXN GDF2 GTF2I HADHA GJA1 GNA11 RYR1 HFE SNAP29 TRNH TNNI3K FLNA TRNS2 SDHAF2 LMNA ACVRL1 TSC2 CASR FOS FGFR3 TRNK TRNL1 BCHE CCR6 CAV1 FGF23 VHL TMEM70 ADAMTSL2 DTNA PRKAG2 BAG3 TRNE SMAD4 TRNS2 ACAD9 SDHC PRKAR1A TAZ CAV1 ALMS1 TRNS1 NDUFB8 LIMK1 CLIC2 GATAD1 SDHD NDUFAF1 PRDM16 SELENON TRPM4 ACTC1 PRKAR1A SCN5A RPS19 TRIP4 FBLN5 SDHB NDUFB11 ATP6V1A HNRNPA2B1 CCN2 PSMB8 PPA2 TRNL1 COX1 RAB3GAP2 TNNI3 HFE COL1A2 TRNC CLIC2 DSP ND1 SCO2 JUP SDHD TRNW COX3 EFEMP2 AGGF1 TMEM127 TCF4 LMNA DSP KIF1B COL1A1 COX2 TPI1 GNPTAB FGD1 PSEN1 RET GLB1 KCNJ5 PHYH DES GTPBP3 HADHB WRN ND5 MECP2 HADHA GDNF VCL GLA TTN KIF1B VHL VCP ABCC6 PPARG CP XYLT1 TET2 DNAJC19 IKBKG NKX2-5 ABCC6