S664G Summary

SCN5A S664G was found in 1 paper (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S664G is present in 2 out of 249028 alleles in gnomAD (minor allele frequency of 0.000803%). S664G has been functionally characterized in 1 paper. Other variants at the same resdue are S664C .S664G .S664I .S664N .S664R .S664R .S664R .S664T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S664G Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
1265088620030000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

S664G Reported Functional Data

Peak current and late current are relative % to wildtype. V0.5 act/inact are the voltages at which half of the maximal current is reached during an activation and inactivation protocol, each is in units of mV and relative to wildtype.

PMID Year Cell type Peak current V0.5 act V0.5 inact Rec from inact Late current
12650886 2003 Oocytes NA 8.42 -2.14 NA

S664G 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 0.005 -3.93 possiblydamaging 0.906 0.4186 -1.74 -2 0.75

S664G 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
649 14.7 C649Y
650 14.2
651 13.7
652 13.2
653 12.6
654 12 E654K
655 11.4 E655K
656 10.7 P656L
657 10.1
658 9.3
659 8.5 R659Q R659W
660 7.6
661 6.6 R661W
662 5.4 A662S
663 3.8
665 3.8 A665S A665T
666 5.4
667 6.6
668 7.6 V668I
669 8.5
670 9.3
671 10.1
672 10.7 A672T
673 11.4
674 12
675 12.6
676 13.2
677 13.7
678 14.2
679 14.7