D1041H Summary

SCN5A D1041H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1041H is not present in gnomAD. D1041H has been functionally characterized in 0 papers. Other variants at the same resdue are D1041A .D1041E .D1041E .D1041G .D1041H .D1041N .D1041V .D1041Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1041H 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 0.471

D1041H 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
1026 14.7
1027 14.2 R1027Q
1028 13.7
1029 13.2
1030 12.6
1031 12
1032 11.4 E1032K
1033 10.7 Q1033R
1034 10.1
1035 9.3
1036 8.5
1037 7.6
1038 6.6
1039 5.4
1040 3.8 G1040R G1040R
1042 3.8
1043 5.4
1044 6.6
1045 7.6 V1045M
1046 8.5
1047 9.3
1048 10.1
1049 10.7
1050 11.4 A1050T
1051 12
1052 12.6
1053 13.2 E1053K
1054 13.7
1055 14.2
1056 14.7