A647V Summary

SCN5A A647V was found in 0 papers (see below) with a total of 3 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A647V is present in 3 out of 247954 alleles in gnomAD (minor allele frequency of 0.00121%). A647V has been functionally characterized in 0 papers. Other variants at the same resdue are A647D .A647G .A647P .A647S .A647T .A647V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A647V 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 0.514 -0.55 benign 0 3.489 -0.95 -2 0.44

A647V 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
632 14.7 T632M
633 14.2
634 13.7 S634L
635 13.2
636 12.6
637 12
638 11.4
639 10.7 G639R G639R
640 10.1 P640A
641 9.3
642 8.5
643 7.6
644 6.6
645 5.4
646 3.8
648 3.8 P648L
649 5.4 C649Y
650 6.6
651 7.6
652 8.5
653 9.3
654 10.1 E654K
655 10.7 E655K
656 11.4 P656L
657 12
658 12.6
659 13.2 R659Q R659W
660 13.7
661 14.2 R661W
662 14.7 A662S