A1529V Summary

SCN5A A1529V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1529V is not present in gnomAD. A1529V has been functionally characterized in 0 papers. Other variants at the same resdue are A1529D .A1529G .A1529P .A1529S .A1529T .A1529V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1529V 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 0.639

A1529V has 28 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
1520 14.7
1521 13.5
1522 13.5
1523 11.3 D1523N
1524 8.2 I1524T
1525 9.5 V1525M
1526 9.2 T1526P
1527 4.4
1528 5.2
1530 5.4
1531 5.7
1532 4.9 V1532F V1532I
1533 5.3 T1533I
1534 8.4
1535 10
1536 10.5
1537 12.2
1538 14.3
1539 14.5 C1539Y
1570 13.4 p.1570_F1571insI p.I1570dup
1571 14.6
1573 13.7
1574 11.9 E1574K
1577 12.3
1578 12.6
1632 14 R1632C R1632H
1635 13.7
1636 11.9