A847G Summary

SCN5A A847G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A847G is not present in gnomAD. A847G has been functionally characterized in 0 papers. Other variants at the same resdue are A847D .A847G .A847P .A847S .A847T .A847V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A847G 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 0.877

A847G has 67 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
141 14.7 I141N I141V
142 12.9
145 11.5
146 14.2 V146A V146M
148 14.2
149 14.5
223 12.8 V223L
224 13.9
226 10.4 A226V
227 11 L227P
228 14.5
229 10
230 9.8 I230T I230V
231 14.1
232 13.5 V232I
233 11.2
236 14.3
239 12.7 I239V I239V
240 13.7 V240M
243 13.4
837 14.7
838 14.2
839 12.1 L839P
840 10
841 11 N841K N841K
842 9.1
843 6.5
844 5.9
845 5.8
846 4.2
848 4.2 I848F
849 5.7
850 4.9 V850M
851 6.7 F851L F851L F851L
852 8.4
853 9.4
854 10.1
855 11.8
856 13.9
884 11.5
885 13.6
887 12.7
888 8.7
889 12.8
890 14 I890T
891 10.3
892 9.8 F892I
894 13.5
895 10.1
896 13.2
922 12.2
925 11.9
926 10.3
927 13.6 N927S
929 13.7
930 10.1
931 11.8
933 13.7
934 13.1
1447 13.4
1448 12.8 I1448L
1451 10.9
1452 13.1
1454 13.5
1455 10.9
1456 14.6
1459 12.1