C1172G Summary

SCN5A C1172G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1172G is not present in gnomAD. C1172G has been functionally characterized in 0 papers. Other variants at the same resdue are C1172F .C1172G .C1172R .C1172S .C1172S .C1172W .C1172Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1172G 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	0.91

C1172G 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
1157	14.7
1158	14.2	G1158S
1159	13.7
1160	13.2
1161	12.6
1162	12
1163	11.4
1164	10.7	P1164T
1165	10.1
1166	9.3
1167	8.5
1168	7.6
1169	6.6	T1169I
1170	5.4
1171	3.8
1173	3.8
1174	5.4	R1174W
1175	6.6	R1175H
1176	7.6
1177	8.5	P1177L
1178	9.3
1179	10.1
1180	10.7	A1180V
1181	11.4	V1181A V1181L V1181L
1182	12
1183	12.6
1184	13.2
1185	13.7
1186	14.2	A1186T
1187	14.7	P1187Q