A993G Summary

SCN5A A993G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A993G is not present in gnomAD. A993G has been functionally characterized in 0 papers. Other variants at the same resdue are A993E .A993G .A993P .A993S .A993T .A993V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A993G 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 0.335

A993G 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
978 14.7
979 14.2
980 13.7
981 13.2
982 12.6 C982R
983 12 G983D
984 11.4
985 10.7
986 10.1 R986L R986Q R986W
987 9.3
988 8.5 R988Q R988W
989 7.6
990 6.6
991 5.4
992 3.8
994 3.8
995 5.4 L995F
996 6.6
997 7.6 A997D A997S A997T
998 8.5
999 9.3
1000 10.1 p.Gln1000del
1001 10.7
1002 11.4 P1002S
1003 12
1004 12.6 C1004R
1005 13.2
1006 13.7
1007 14.2
1008 14.7 P1008S