D883N Summary

SCN5A D883N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D883N is not present in gnomAD. D883N has been functionally characterized in 0 papers. Other variants at the same resdue are D883A .D883E .D883E .D883G .D883H .D883N .D883V .D883Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D883N 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 0.666

D883N has 53 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
146 14.3 V146A V146M
147 14.7
148 12.1
149 9
150 11.3
151 10.4
152 6 D152N
153 10.1
154 11.4
155 14.6
156 14.4
850 14.4 V850M
851 12.7 F851L F851L F851L
854 9.7
855 10.2
856 13
857 10.5 G857D
858 7 M858L M858L
859 11.9
860 14.2
861 12.8
862 9.6
863 13.1
864 13.9
865 10.5
866 12.3 S866L
875 14.2
876 10.9
877 11.4
878 13.6 R878C R878H
879 11 W879R W879R
880 6.4
881 7.5
882 5.1
884 5.8
885 5.9
886 4.7 H886P H886Q H886Q
887 6.4
888 9.7
889 9.4
890 10.1 I890T
891 12.5
892 14.4 F892I
902 14.8
1429 13.7
1440 11.8
1441 10.1
1442 14
1443 14.1 N1443S
1444 8.9
1445 13 Y1445H
1447 11.3
1448 14.8 I1448L