C1128F Summary

SCN5A C1128F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1128F is not present in gnomAD. C1128F has been functionally characterized in 0 papers. Other variants at the same resdue are C1128F .C1128G .C1128R .C1128S .C1128S .C1128W .C1128Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1128F 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	0.461

C1128F 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
1113	14.7	A1113V
1114	14.2	D1114E D1114E D1114N
1115	13.7
1116	13.2	R1116Q R1116W
1117	12.6
1118	12
1119	11.4
1120	10.7
1121	10.1	A1121V
1122	9.3
1123	8.5
1124	7.6
1125	6.6	A1125G A1125V
1126	5.4
1127	3.8
1129	3.8	G1129S
1130	5.4
1131	6.6	T1131I
1132	7.6
1133	8.5
1134	9.3
1135	10.1	S1135I
1136	10.7
1137	11.4
1138	12
1139	12.6
1140	13.2
1141	13.7
1142	14.2
1143	14.7