A819P Summary

SCN5A A819P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A819P is not present in gnomAD. A819P has been functionally characterized in 0 papers. Other variants at the same resdue are A819D .A819G .A819P .A819S .A819T .A819V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A819P 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 0.979

A819P has 46 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 12.6
721 14.6
723 12.9 I723V
724 10.5 T724I
727 10.7
728 12.6 V728I
731 13.2
779 14.3 Q779K
780 11.9
781 7.5
782 13.5
783 14.7
784 9.9
785 11.7 D785N
788 13.6
812 13.1
813 11.6
814 12.6 R814Q
815 8.2
816 6.7 F816Y
817 6.5
818 4.9
820 5.4
821 5.3
822 6.4
823 7.4
824 8
825 4.4
826 5.3
827 9.4
828 8.7
829 7.1
830 11.1
831 13
832 11.8
833 13.4 G833R G833R
1336 13.7
1337 14.5
1339 10.9 p.L1339del
1340 10.2 V1340I
1341 13.9
1342 13.8
1343 9.4
1344 10.4
1346 13.8 L1346P
1347 12.2