A949P Summary

SCN5A A949P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A949P is not present in gnomAD. A949P has been functionally characterized in 0 papers. Other variants at the same resdue are A949D .A949G .A949P .A949S .A949T .A949V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A949P 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 0.793

A949P 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
934 14.7
935 14.2
936 13.7
937 13.2
938 12.6
939 12
940 11.4
941 10.7 S941N
942 10.1
943 9.3
944 8.5
945 7.6 D945G
946 6.6
947 5.4
948 3.8
950 3.8
951 5.4
952 6.6
953 7.6 D953E D953E
954 8.5
955 9.3
956 10.1
957 10.7
958 11.4
959 12 L959P
960 12.6
961 13.2
962 13.7
963 14.2
964 14.7