A1180V Summary

SCN5A A1180V was found in 7 papers (see below) with a total of 46 carriers: 0 had BrS1, 1 had LQT3, and 6 had other disease. A1180V is present in 39 out of 265896 alleles in gnomAD (minor allele frequency of 0.014667%). A1180V has been functionally characterized in 0 papers. Other variants at the same resdue are A1180E .A1180G .A1180P .A1180S .A1180T .A1180V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1180V Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
1980839720080000
1980839820080000
2054104120100010
2396318720142010
2463177520140001SD
2422789120133005DCM
2674645720161000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A1180V 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 0.061 -1.17 benign 0.013 3.666 -1.56 -2 0.494

A1180V 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
1165 14.7
1166 14.2
1167 13.7
1168 13.2
1169 12.6 T1169I
1170 12
1171 11.4
1172 10.7
1173 10.1
1174 9.3 R1174W
1175 8.5 R1175H
1176 7.6
1177 6.6 P1177L
1178 5.4
1179 3.8
1181 3.8 V1181A V1181L V1181L
1182 5.4
1183 6.6
1184 7.6
1185 8.5
1186 9.3 A1186T
1187 10.1 P1187Q
1188 10.7
1189 11.4
1190 12 V1190F
1191 12.6
1192 13.2
1193 13.7 R1193Q R1193W
1194 14.2
1195 14.7 R1195H