A1186V Summary

SCN5A A1186V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1186V is not present in gnomAD. A1186V has been functionally characterized in 0 papers. Other variants at the same resdue are A1186D .A1186G .A1186P .A1186S .A1186T .A1186V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1186V 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	0.355

A1186V 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
1171	14.7
1172	14.2
1173	13.7
1174	13.2	R1174W
1175	12.6	R1175H
1176	12
1177	11.4	P1177L
1178	10.7
1179	10.1
1180	9.3	A1180V
1181	8.5	V1181A V1181L V1181L
1182	7.6
1183	6.6
1184	5.4
1185	3.8
1187	3.8	P1187Q
1188	5.4
1189	6.6
1190	7.6	V1190F
1191	8.5
1192	9.3
1193	10.1	R1193Q R1193W
1194	10.7
1195	11.4	R1195H
1196	12
1197	12.6
1198	13.2
1199	13.7
1200	14.2
1201	14.7