L828H Summary

SCN5A L828H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L828H is not present in gnomAD. L828H has been functionally characterized in 0 papers. Other variants at the same resdue are L828F .L828H .L828I .L828P .L828R .L828V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

L828H 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 0.985

L828H has 54 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
781 13.7
815 14.1
816 11.3 F816Y
818 12.6
819 8.7
820 12.9
821 12.8
822 11
823 9.6
824 6.7
825 5.3
826 7.1
827 5
829 4.3
830 7.5
831 5.7
832 5.8
833 9.1 G833R G833R
834 10.4
835 10.4 S835A
836 12.6
839 13 L839P
934 14.3
937 13.6
938 11
939 14.3
940 14.1
941 10.2 S941N
942 7.7
943 12.6
944 10.7
1333 12.9
1334 14.2 I1334V
1336 10.2
1337 9.3
1338 12.8 L1338V
1339 10.4 p.L1339del
1340 7.2 V1340I
1341 10.5
1342 13.7
1343 10.8
1344 9.1
1345 14.1 W1345C W1345C
1347 14.2
1456 11.7
1457 13.1
1460 8.8
1461 10 T1461S T1461S
1462 14.6
1463 13.9
1464 9.4
1465 13.3
1467 13.2
1468 12.7