A936D Summary

SCN5A A936D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A936D is not present in gnomAD. A936D has been functionally characterized in 0 papers. Other variants at the same resdue are A936D .A936G .A936P .A936S .A936T .A936V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A936D 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 0.96

A936D has 78 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
238 11.4
239 10.4 I239V I239V
240 14.4 V240M
241 13.4
242 10.3
243 11.8
245 14.2 Q245K
246 11.3
249 14.8
405 14.1
406 12.7 N406K N406K N406S
407 14.3
408 12.2
409 7.8 L409V
410 9.5
411 10.7 V411M
412 7
413 5.4 A413T
414 10.2
415 9
416 5.4 Y416C
417 7.9
418 12.1
419 11.8
420 9.7
421 13
831 13.8
832 14.5
835 12.1 S835A
837 14.1
838 10.8
839 10.9 L839P
840 13.8
841 13.6 N841K N841K
842 9.8
843 13.4
845 14.5
846 14.2
926 13.8
927 13.2 N927S
928 13
929 10.6
930 9.8
931 9.8
932 7.4
933 5.2
934 6.5
935 4.7
937 4.6
938 5.7
939 4.7
940 6.2
941 8.2 S941N
942 9.6
943 11.1
944 14.4
1459 12.7
1460 11.8
1461 14.3 T1461S T1461S
1462 14.2
1463 9.8
1464 11.1
1465 14.6
1466 10
1467 9.1
1468 12.7
1469 13.7
1470 10.2
1471 11.7
1474 14.9
1765 14.2
1768 12.5 I1768V
1769 13
1771 14.7
1772 10.4
1773 13.2
1775 13.7
1776 13.1