A819V Summary

SCN5A A819V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A819V is not present in gnomAD. A819V has been functionally characterized in 0 papers. Other variants at the same resdue are A819D .A819G .A819P .A819S .A819T .A819V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A819V Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT	Sift Score	PROVEAN Score	Polyphen2	Polyphen2 Score	eaRate	blastPssm	pamScore	REVEL
NA	NA	NA	NA	NA	NA	NA	NA	0.891

A819V has 46 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber	Distance(Å)	Variants
720	12.6
721	14.6
723	12.9	I723V
724	10.5	T724I
727	10.7
728	12.6	V728I
731	13.2
779	14.3	Q779K
780	11.9
781	7.5
782	13.5
783	14.7
784	9.9
785	11.7	D785N
788	13.6
812	13.1
813	11.6
814	12.6	R814Q
815	8.2
816	6.7	F816Y
817	6.5
818	4.9
820	5.4
821	5.3
822	6.4
823	7.4
824	8
825	4.4
826	5.3
827	9.4
828	8.7
829	7.1
830	11.1
831	13
832	11.8
833	13.4	G833R G833R
1336	13.7
1337	14.5
1339	10.9	p.L1339del
1340	10.2	V1340I
1341	13.9
1342	13.8
1343	9.4
1344	10.4
1346	13.8	L1346P
1347	12.2