A662S Summary

SCN5A A662S was found in 1 paper (see below) with a total of 6 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. A662S is present in 6 out of 280220 alleles in gnomAD (minor allele frequency of 0.002141%). A662S has been functionally characterized in 0 papers. Other variants at the same resdue are A662D .A662G .A662P .A662S .A662T .A662V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A662S Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2463177520140001SIDS
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A662S 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 0.05 -2.61 possiblydamaging 0.684 1.231 0.71 0 0.834

A662S 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
647 14.7 A647D A647S A647V
648 14.2 P648L
649 13.7 C649Y
650 13.2
651 12.6
652 12
653 11.4
654 10.7 E654K
655 10.1 E655K
656 9.3 P656L
657 8.5
658 7.6
659 6.6 R659Q R659W
660 5.4
661 3.8 R661W
663 3.8
664 5.4 S664G
665 6.6 A665S A665T
666 7.6
667 8.5
668 9.3 V668I
669 10.1
670 10.7
671 11.4
672 12 A672T
673 12.6
674 13.2
675 13.7
676 14.2
677 14.7