A110G Summary

SCN5A A110G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A110G is not present in gnomAD. A110G has been functionally characterized in 0 papers. Other variants at the same resdue are A110D .A110G .A110P .A110S .A110T .A110V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A110G 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 0.939

A110G 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
95 14.7 V95I V95L V95L
96 14.2
97 13.7
98 13.2
99 12.6
100 12
101 11.4
102 10.7
103 10.1
104 9.3 R104Q R104W
105 8.5
106 7.6
107 6.6
108 5.4
109 3.8 N109K N109K
111 3.8
112 5.4
113 6.6
114 7.6
115 8.5
116 9.3
117 10.1
118 10.7
119 11.4 P119L P119S
120 12
121 12.6 R121Q R121W
122 13.2
123 13.7 A123V
124 14.2
125 14.7 V125L V125L