G607S Summary

SCN5A G607S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G607S is not present in gnomAD. G607S has been functionally characterized in 0 papers. Other variants at the same resdue are G607A .G607C .G607D .G607R .G607S .G607V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G607S 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 0.552

G607S 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
592 14.7 N592K N592K N592S
593 14.2
594 13.7
595 13.2
596 12.6
597 12
598 11.4
599 10.7 G599R G599R
600 10.1
601 9.3
602 8.5
603 7.6
604 6.6 L604V
605 5.4
606 3.8
608 3.8 D608N
609 5.4
610 6.6
611 7.6
612 8.5
613 9.3
614 10.1
615 10.7 G615E
616 11.4
617 12
618 12.6 L618F
619 13.2 L619F
620 13.7 R620C R620H
621 14.2
622 14.7