A582D Summary

SCN5A A582D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A582D is not present in gnomAD. A582D has been functionally characterized in 0 papers. Other variants at the same resdue are A582D .A582G .A582P .A582S .A582T .A582V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A582D 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 0.253

A582D has 30 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
567 14.7 L567Q
568 14.2 R568C R568H
569 13.7 R569Q R569W
570 13.2 T570N
571 12.6 S571I
572 12 A572D A572F A572S A572V
573 11.4 Q573E
574 10.7
575 10.1
576 9.3
577 8.5
578 7.6
579 6.6 G579R G579R
580 5.4
581 3.8 S581L
583 3.8
584 5.4 G584R
585 6.6
586 7.6 A586T
587 8.5
588 9.3
589 10.1
590 10.7
591 11.4
592 12 N592K N592K N592S
593 12.6
594 13.2
595 13.7
596 14.2
597 14.7