C1363S Summary

SCN5A C1363S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1363S is not present in gnomAD. C1363S has been functionally characterized in 0 papers. Other variants at the same resdue are C1363F .C1363G .C1363R .C1363S .C1363S .C1363W .C1363Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1363S 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	0.973

C1363S has 41 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
1358	14
1359	13.6
1360	12.4
1361	7.1
1362	6
1364	4.4
1365	6.3
1366	10.3
1367	11.9
1378	9.8	V1378M
1379	7.8
1380	5.5	N1380K N1380K p.N1380del
1381	6.9
1382	8.9	S1382I
1383	11
1384	11.7
1385	10
1386	5.8
1387	8.9
1388	8.5
1389	8.2
1390	10
1391	9.5	G1391R G1391R
1392	11.1
1393	8.5
1394	7.5
1395	5.3
1396	6.5
1397	11.1
1398	11.8	V1398M
1426	13.9
1427	13.1
1430	11.9	D1430N
1431	12.6
1432	13.5	R1432S R1432S
1433	13	G1433W
1435	12.6
1436	11.2
1437	6.1
1438	8
1439	10.9