E1555A Summary

SCN5A E1555A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1555A is not present in gnomAD. E1555A has been functionally characterized in 0 papers. Other variants at the same resdue are E1555A .E1555D .E1555D .E1555G .E1555K .E1555Q .E1555V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1555A 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

E1555A has 17 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
1544 15
1547 12.7
1548 12.9 E1548K G1548K
1549 12.6
1550 14.9
1551 12.1 D1551N
1552 8.7
1553 4.9
1554 4.5
1556 5.1
1557 7.3
1558 6.6
1559 7.7 I1559V
1560 9.9 L1560F L1560F
1561 11.6
1562 11
1563 13.4