D84G Summary

SCN5A D84G was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D84G is present in 2 out of 31320 alleles in gnomAD (minor allele frequency of 0.006386%). D84G has been functionally characterized in 0 papers. Other variants at the same resdue are D84A .D84E .D84E .D84G .D84H .D84N .D84V .D84Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D84G 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
Damaging 0.001 -6.46 probablydamaging 0.993 0.05012 -0.33 -3 0.965

D84G 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
69 14.7 G69D
70 14.2 N70K N70K N70S
71 13.7
72 13.2
73 12.6
74 12 E74D E74D
75 11.4
76 10.7
77 10.1
78 9.3
79 8.5 P79A
80 7.6
81 6.6
82 5.4 D82E D82E
83 3.8
85 3.8
86 5.4 F86L F86L F86L
87 6.6
88 7.6 S88G
89 8.5
90 9.3
91 10.1
92 10.7 T92I
93 11.4 F93S
94 12 I94V
95 12.6 V95I V95L V95L
96 13.2
97 13.7
98 14.2
99 14.7