G599R Summary

SCN5A G599R was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G599R is present in 2 out of 244056 alleles in gnomAD (minor allele frequency of 0.000819%). G599R has been functionally characterized in 0 papers. Other variants at the same resdue are G599A .G599E .G599R .G599R .G599V .G599W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G599R 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 -6.36 probablydamaging 1 3.116 1.74 -9 0.855

G599R 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
584 14.7 G584R
585 14.2
586 13.7 A586T
587 13.2
588 12.6
589 12
590 11.4
591 10.7
592 10.1 N592K N592K N592S
593 9.3
594 8.5
595 7.6
596 6.6
597 5.4
598 3.8
600 3.8
601 5.4
602 6.6
603 7.6
604 8.5 L604V
605 9.3
606 10.1
607 10.7 G607V
608 11.4 D608N
609 12
610 12.6
611 13.2
612 13.7
613 14.2
614 14.7