D979A Summary

SCN5A D979A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D979A is not present in gnomAD. D979A has been functionally characterized in 0 papers. Other variants at the same resdue are D979A .D979E .D979E .D979G .D979H .D979N .D979V .D979Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D979A 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 0.627

D979A 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
964 14.7
965 14.2 R965C R965H
966 13.7
967 13.2
968 12.6
969 12 G969C
970 11.4
971 10.7 R971C R971H
972 10.1
973 9.3
974 8.5
975 7.6 R975Q R975W
976 6.6
977 5.4
978 3.8
980 3.8
981 5.4
982 6.6 C982R
983 7.6 G983D
984 8.5
985 9.3
986 10.1 R986L R986Q R986W
987 10.7
988 11.4 R988Q R988W
989 12
990 12.6
991 13.2
992 13.7
993 14.2 A993T
994 14.7