A611D Summary

SCN5A A611D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A611D is not present in gnomAD. A611D has been functionally characterized in 0 papers. Other variants at the same resdue are A611D .A611G .A611P .A611S .A611T .A611V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A611D 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 0.535

A611D 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
596 14.7
597 14.2
598 13.7
599 13.2 G599R G599R
600 12.6
601 12
602 11.4
603 10.7
604 10.1 L604V
605 9.3
606 8.5
607 7.6 G607V
608 6.6 D608N
609 5.4
610 3.8
612 3.8
613 5.4
614 6.6
615 7.6 G615E
616 8.5
617 9.3
618 10.1 L618F
619 10.7 L619F
620 11.4 R620C R620H
621 12
622 12.6
623 13.2
624 13.7 L624Q
625 14.2 E625D E625D
626 14.7