G605E Summary

SCN5A G605E was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. G605E is present in 1 out of 226610 alleles in gnomAD (minor allele frequency of 0.000441%). G605E has been functionally characterized in 0 papers. Other variants at the same resdue are G605A .G605E .G605R .G605R .G605V .G605W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G605E 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
Damaging 0.003 -3.53 probablydamaging 0.968 3.712 0.42 -4 0.619

G605E 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
590 14.7
591 14.2
592 13.7 N592K N592K N592S
593 13.2
594 12.6
595 12
596 11.4
597 10.7
598 10.1
599 9.3 G599R G599R
600 8.5
601 7.6
602 6.6
603 5.4
604 3.8 L604V
606 3.8
607 5.4 G607V
608 6.6 D608N
609 7.6
610 8.5
611 9.3
612 10.1
613 10.7
614 11.4
615 12 G615E
616 12.6
617 13.2
618 13.7 L618F
619 14.2 L619F
620 14.7 R620C R620H