C1136G Summary

SCN5A C1136G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1136G is not present in gnomAD. C1136G has been functionally characterized in 0 papers. Other variants at the same resdue are C1136F .C1136G .C1136R .C1136S .C1136S .C1136W .C1136Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1136G 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	0.186

C1136G 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
1121	14.7	A1121V
1122	14.2
1123	13.7
1124	13.2
1125	12.6	A1125G A1125V
1126	12
1127	11.4
1128	10.7
1129	10.1	G1129S
1130	9.3
1131	8.5	T1131I
1132	7.6
1133	6.6
1134	5.4
1135	3.8	S1135I
1137	3.8
1138	5.4
1139	6.6
1140	7.6
1141	8.5
1142	9.3
1143	10.1
1144	10.7
1145	11.4
1146	12
1147	12.6	T1147N T1147S T1147S
1148	13.2	A1148T
1149	13.7
1150	14.2
1151	14.7