T824N Summary

SCN5A T824N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T824N is not present in gnomAD. T824N has been functionally characterized in 0 papers. Other variants at the same resdue are T824A .T824I .T824N .T824P .T824S .T824S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T824N 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 0.914

T824N has 40 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
724 14.9 T724I
781 14.4
815 14.2
816 13.2 F816Y
817 14.1
818 10.5
819 8
820 11.3
821 9.1
822 6
823 4.4
825 4.4
826 6.3
827 5.7
828 6.7
829 9.1
830 10.9
831 11.1
832 12.3
833 14.9 G833R G833R
942 12.3
944 11.8
1332 12.9 P1332L
1333 10.8
1334 12.7 I1334V
1335 11.3 M1335R
1336 6.5
1337 9
1338 11.3 L1338V
1339 7.2 p.L1339del
1340 7.4 V1340I
1341 11.4
1342 12.7
1343 10.3
1344 11.5
1460 14.2
1461 13.6 T1461S T1461S
1464 12.9
1465 14.7
1468 13.8