D152H Summary

SCN5A D152H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D152H is not present in gnomAD. D152H has been functionally characterized in 0 papers. Other variants at the same resdue are D152A .D152E .D152E .D152G .D152H .D152N .D152V .D152Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D152H 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 0.696

D152H 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
144 13.6
145 13
146 11 V146A V146M
147 10
148 9.4
149 5.9
150 6.3
151 5.7
153 4.6
154 5.9
155 8.7
156 9.2
157 12.4
161 14.6 E161K
219 13.3 R219C
851 13.4 F851L F851L F851L
854 12.3
855 10.9
856 14.4
857 13 G857D
858 8.3 M858L M858L
859 11.7
862 11.8
863 13.8
865 14.5
866 14 S866L
880 12
881 11.9
882 8.1
883 6
884 7.8
885 9
886 10.6 H886P H886Q H886Q
887 11
888 13.6
889 14.6
1441 13.4
1444 12.6
1445 14.8 Y1445H
1447 15