G639R Summary

SCN5A G639R was found in 2 papers (see below) with a total of 3 carriers: 0 had BrS1, 2 had LQT3, and 0 had other disease. G639R is present in 1 out of 246566 alleles in gnomAD (minor allele frequency of 0.000406%). G639R has been functionally characterized in 0 papers. Other variants at the same resdue are G639A .G639E .G639R .G639R .G639V .G639W . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

G639R Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
1692272420060010
1971608520090010
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G639R 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
Tolerated 0.781 1.72 benign 0.001 2.985 1.27 -9 0.49

G639R 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
624 14.7 L624Q
625 14.2 E625D E625D
626 13.7
627 13.2 P627L
628 12.6
629 12
630 11.4 T630M
631 10.7
632 10.1 T632M
633 9.3
634 8.5 S634L
635 7.6
636 6.6
637 5.4
638 3.8
640 3.8 P640A
641 5.4
642 6.6
643 7.6
644 8.5
645 9.3
646 10.1
647 10.7 A647D A647S A647V
648 11.4 P648L
649 12 C649Y
650 12.6
651 13.2
652 13.7
653 14.2
654 14.7 E654K