E1105V Summary

SCN5A E1105V was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1105V is present in 1 out of 245614 alleles in gnomAD (minor allele frequency of 0.000407%). E1105V has been functionally characterized in 0 papers. Other variants at the same resdue are E1105A .E1105D .E1105D .E1105G .E1105K .E1105Q .E1105V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1105V 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
Damaging 0.004 -1.81 benign 0.022 3.166 -1.91 -6 0.494

E1105V 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
1090 14.7 P1090L
1091 14.2
1092 13.7
1093 13.2
1094 12.6
1095 12 W1095C W1095C
1096 11.4
1097 10.7
1098 10.1 V1098L V1098L V1098M
1099 9.3
1100 8.5 A1100V
1101 7.6
1102 6.6 A1102T
1103 5.4 S1103F S1103Y
1104 3.8
1106 3.8 A1106T
1107 5.4 E1107K
1108 6.6
1109 7.6 S1109G
1110 8.5
1111 9.3
1112 10.1
1113 10.7 A1113V
1114 11.4 D1114E D1114E D1114N
1115 12
1116 12.6 R1116Q R1116W
1117 13.2
1118 13.7
1119 14.2
1120 14.7