D1484N Summary

SCN5A D1484N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1484N is not present in gnomAD. D1484N has been functionally characterized in 0 papers. Other variants at the same resdue are D1484A .D1484E .D1484E .D1484G .D1484H .D1484N .D1484V .D1484Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1484N 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 0.88

D1484N has 25 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
943 14.7
944 14.8
1471 13.5
1472 13.6 p.N1472del
1474 10.1
1475 7.2
1476 11.4 Q1476R
1477 11.8
1478 5.8
1479 8.3
1480 12
1481 10
1482 7
1483 5.5
1485 5.4
1486 7.6
1487 5.5 M1487L M1487L
1488 9.8
1489 10.1 E1489D E1489D
1490 13.8
1491 11.9
1492 10.4
1493 14.8 K1493R p.K1493del
1495 13.1
1496 15