C1575R Summary

SCN5A C1575R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1575R is not present in gnomAD. C1575R has been functionally characterized in 0 papers. Other variants at the same resdue are C1575F .C1575G .C1575R .C1575S .C1575S .C1575W .C1575Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1575R 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 0.963

C1575R has 54 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
1518 14.1
1521 11.1
1522 13.6
1524 11.9 I1524T
1525 10.2 V1525M
1526 14.2 T1526P
1530 10.2
1531 12.3
1533 14.1 T1533I
1534 10.1
1535 13.1
1537 13.1
1538 13.2
1566 14.7
1567 13.6
1568 10
1569 9.8
1570 9.5 p.1570_F1571insI p.I1570dup
1571 7.4
1572 5.5
1573 5.2
1574 4.2 E1574K
1576 5
1577 6.4
1578 5.2
1579 6.2
1580 8.8
1581 10.2
1582 10.1
1583 12.2 R1583C R1583H
1584 13.8
1585 14.5
1586 7.1
1587 10.5
1588 14.3
1589 12.1
1590 13.6
1591 13.4
1592 7.9
1593 10.4 I1593M
1594 12.1
1595 7
1596 6.7 F1596I
1597 10.2 V1597M
1598 9.6
1599 6.8
1600 9.5
1601 13 L1601H
1602 11.4
1603 11.6
1625 14.2
1626 14.1 R1626C R1626H R1626P
1629 10.5 R1629G R1629Q
1632 12.3 R1632C R1632H