E1029K Summary

SCN5A E1029K was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1029K is present in 1 out of 248498 alleles in gnomAD (minor allele frequency of 0.000402%). E1029K has been functionally characterized in 0 papers. Other variants at the same resdue are E1029A .E1029D .E1029D .E1029G .E1029K .E1029Q .E1029V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1029K 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 0.738 -0.88 possiblydamaging 0.801 3.756 -0.06 -4 0.511

E1029K 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
1014 14.7 P1014S
1015 14.2
1016 13.7 T1016M
1017 13.2
1018 12.6
1019 12
1020 11.4
1021 10.7 P1021S
1022 10.1
1023 9.3 R1023C R1023H R1023P
1024 8.5
1025 7.6
1026 6.6
1027 5.4 R1027Q
1028 3.8
1030 3.8
1031 5.4
1032 6.6 E1032K
1033 7.6 Q1033R
1034 8.5
1035 9.3
1036 10.1
1037 10.7
1038 11.4
1039 12
1040 12.6 G1040R G1040R
1041 13.2 D1041N
1042 13.7
1043 14.2
1044 14.7