C1198W Summary

SCN5A C1198W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1198W is not present in gnomAD. C1198W has been functionally characterized in 0 papers. Other variants at the same resdue are C1198F .C1198G .C1198R .C1198S .C1198S .C1198W .C1198Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C1198W 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	0.837

C1198W has 30 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
1183	14.7
1184	14.2
1185	13.7
1186	13.2	A1186T
1187	12.6	P1187Q
1188	12
1189	11.4
1190	10.7	V1190F
1191	10.1
1192	9.3
1193	8.5	R1193Q R1193W
1194	7.6
1195	6.6	R1195H
1196	5.4
1197	3.8
1199	3.8
1200	5.4
1201	6.6
1202	7.6	V1202M
1203	8.5
1204	9.3
1205	10.1
1206	10.7
1207	11.4
1208	12	E1208K
1209	12.6
1210	13.2	F1210S
1211	13.7
1212	14.2	p.I1212del
1213	14.7