A606G Summary

SCN5A A606G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A606G is not present in gnomAD. A606G has been functionally characterized in 0 papers. Other variants at the same resdue are A606E .A606G .A606P .A606S .A606T .A606V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A606G 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 0.315

A606G 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
591 14.7
592 14.2 N592K N592K N592S
593 13.7
594 13.2
595 12.6
596 12
597 11.4
598 10.7
599 10.1 G599R G599R
600 9.3
601 8.5
602 7.6
603 6.6
604 5.4 L604V
605 3.8
607 3.8 G607V
608 5.4 D608N
609 6.6
610 7.6
611 8.5
612 9.3
613 10.1
614 10.7
615 11.4 G615E
616 12
617 12.6
618 13.2 L618F
619 13.7 L619F
620 14.2 R620C R620H
621 14.7