N826T Summary

SCN5A N826T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N826T is not present in gnomAD. N826T has been functionally characterized in 0 papers. Other variants at the same resdue are N826D .N826H .N826I .N826K .N826K .N826S .N826T .N826Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

N826T 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 0.934

N826T has 35 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
720 14.5
724 14 T724I
779 13.8 Q779K
780 12.5
781 8.9
782 14.9
784 13.1
815 13.4
816 11.2 F816Y
817 10.8
818 9.8
819 5.3
820 6.6
821 7.6
822 8.1
823 5
824 6.3
825 5
827 5
828 7.1
829 6.2
830 6.9
831 9.7
832 10.6
833 11.4 G833R G833R
834 12.5
835 14.8 S835A
942 13.6
944 13.7
1336 12.7
1337 14.2
1339 12.4 p.L1339del
1340 11.4 V1340I
1343 12.9
1344 13.1