A962D Summary

SCN5A A962D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A962D is not present in gnomAD. A962D has been functionally characterized in 0 papers. Other variants at the same resdue are A962D .A962G .A962P .A962S .A962T .A962V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A962D 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 0.946

A962D 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
947 14.7
948 14.2
949 13.7
950 13.2
951 12.6
952 12
953 11.4 D953E D953E
954 10.7
955 10.1
956 9.3
957 8.5
958 7.6
959 6.6 L959P
960 5.4
961 3.8
963 3.8
964 5.4
965 6.6 R965C R965H
966 7.6
967 8.5
968 9.3
969 10.1 G969C
970 10.7
971 11.4 R971C R971H
972 12
973 12.6
974 13.2
975 13.7 R975Q R975W
976 14.2
977 14.7