D1523A Summary

SCN5A D1523A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1523A is not present in gnomAD. D1523A has been functionally characterized in 0 papers. Other variants at the same resdue are D1523A .D1523E .D1523E .D1523G .D1523H .D1523N .D1523V .D1523Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1523A 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 0.949

D1523A has 35 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
1509 13.8
1510 11.3
1511 12.3
1512 7.1 R1512Q R1512W
1513 9.9
1514 12.6
1515 12.5 N1515S
1516 13.8
1517 11.5
1518 9.7
1519 5.2
1520 5.9
1521 6.7
1522 4.7
1524 5.2 I1524T
1525 6.9 V1525M
1526 5.5 T1526P
1527 6.9
1528 10.9
1529 11.3
1530 10
1531 12
1573 14.9
1574 14.7 E1574K
1576 14.2
1577 9.8
1578 11.9
1579 14.4
1580 11.3
1581 9
1582 11.5
1583 14.4 R1583C R1583H
1799 15
1800 13.6
1803 14.8