A1125V Summary

SCN5A A1125V was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1125V is present in 2 out of 31380 alleles in gnomAD (minor allele frequency of 0.006373%). A1125V has been functionally characterized in 0 papers. Other variants at the same resdue are A1125D .A1125G .A1125P .A1125S .A1125T .A1125V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1125V 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
Tolerated	0.299	-0.47	benign	0.013	1	0.15	-2	0.48

A1125V 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
1110	14.7
1111	14.2
1112	13.7
1113	13.2	A1113V
1114	12.6	D1114E D1114E D1114N
1115	12
1116	11.4	R1116Q R1116W
1117	10.7
1118	10.1
1119	9.3
1120	8.5
1121	7.6	A1121V
1122	6.6
1123	5.4
1124	3.8
1126	3.8
1127	5.4
1128	6.6
1129	7.6	G1129S
1130	8.5
1131	9.3	T1131I
1132	10.1
1133	10.7
1134	11.4
1135	12	S1135I
1136	12.6
1137	13.2
1138	13.7
1139	14.2
1140	14.7