A658V Summary

SCN5A A658V was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A658V is present in 1 out of 248740 alleles in gnomAD (minor allele frequency of 0.000402%). A658V has been functionally characterized in 0 papers. Other variants at the same resdue are A658E .A658G .A658P .A658S .A658T .A658V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A658V 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 0.349 -1.45 benign 0.024 2.336 -0.85 -2 0.332

A658V 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
643 14.7
644 14.2
645 13.7
646 13.2
647 12.6 A647D A647S A647V
648 12 P648L
649 11.4 C649Y
650 10.7
651 10.1
652 9.3
653 8.5
654 7.6 E654K
655 6.6 E655K
656 5.4 P656L
657 3.8
659 3.8 R659Q R659W
660 5.4
661 6.6 R661W
662 7.6 A662S
663 8.5
664 9.3 S664G
665 10.1 A665S A665T
666 10.7
667 11.4
668 12 V668I
669 12.6
670 13.2
671 13.7
672 14.2 A672T
673 14.7