D82H Summary

SCN5A D82H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D82H is not present in gnomAD. D82H has been functionally characterized in 0 papers. Other variants at the same resdue are D82A .D82E .D82E .D82G .D82H .D82N .D82V .D82Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D82H 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 0.928

D82H has 30 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
67 14.7
68 14.2
69 13.7 G69D
70 13.2 N70K N70K N70S
71 12.6
72 12
73 11.4
74 10.7 E74D E74D
75 10.1
76 9.3
77 8.5
78 7.6
79 6.6 P79A
80 5.4
81 3.8
83 3.8
84 5.4 D84G D84N
85 6.6
86 7.6 F86L F86L F86L
87 8.5
88 9.3 S88G
89 10.1
90 10.7
91 11.4
92 12 T92I
93 12.6 F93S
94 13.2 I94V
95 13.7 V95I V95L V95L
96 14.2
97 14.7