A964T Summary

SCN5A A964T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A964T is not present in gnomAD. A964T has been functionally characterized in 0 papers. Other variants at the same resdue are A964D .A964G .A964P .A964S .A964T .A964V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A964T 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 0.654

A964T 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
949 14.7
950 14.2
951 13.7
952 13.2
953 12.6 D953E D953E
954 12
955 11.4
956 10.7
957 10.1
958 9.3
959 8.5 L959P
960 7.6
961 6.6
962 5.4
963 3.8
965 3.8 R965C R965H
966 5.4
967 6.6
968 7.6
969 8.5 G969C
970 9.3
971 10.1 R971C R971H
972 10.7
973 11.4
974 12
975 12.6 R975Q R975W
976 13.2
977 13.7
978 14.2
979 14.7