A994D Summary

SCN5A A994D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A994D is not present in gnomAD. A994D has been functionally characterized in 0 papers. Other variants at the same resdue are A994D .A994G .A994P .A994S .A994T .A994V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A994D 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 0.567

A994D 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
979 14.7
980 14.2
981 13.7
982 13.2 C982R
983 12.6 G983D
984 12
985 11.4
986 10.7 R986L R986Q R986W
987 10.1
988 9.3 R988Q R988W
989 8.5
990 7.6
991 6.6
992 5.4
993 3.8 A993T
995 3.8 L995F
996 5.4
997 6.6 A997D A997S A997T
998 7.6
999 8.5
1000 9.3 p.Gln1000del
1001 10.1
1002 10.7 P1002S
1003 11.4
1004 12 C1004R
1005 12.6
1006 13.2
1007 13.7
1008 14.2 P1008S
1009 14.7