A944S Summary

SCN5A A944S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A944S is not present in gnomAD. A944S has been functionally characterized in 0 papers. Other variants at the same resdue are A944E .A944G .A944P .A944S .A944T .A944V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A944S 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 0.469

A944S has 44 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
823 14
824 11.8
825 14.2
826 13.7
827 8.7
828 10.7
829 13.8
830 11.3
831 8.8
832 13.2
833 14.8 G833R G833R
834 13
835 14.2 S835A
936 14.4
937 13.7
938 11.3
939 10.1
940 10.1
941 8.5 S941N
942 6.8
943 4.2
1329 14.4 G1329S
1330 13.4 A1330T
1332 13.7 P1332L
1333 10.5
1334 13.8 I1334V
1336 12
1337 12.6
1340 14.9 V1340I
1460 14.8
1464 11.6
1465 14.5
1466 13.8
1467 9.9
1468 8.9
1469 12.8
1470 11.8
1471 7.8
1472 10.3 p.N1472del
1473 15 F1473C
1474 12.2
1475 11.7
1484 14.8
1487 13.8 M1487L M1487L