P656L Summary

SCN5A P656L was found in 1 paper (see below) with a total of 124 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P656L is present in 123 out of 280054 alleles in gnomAD (minor allele frequency of 0.04392%). P656L has been functionally characterized in 0 papers. Other variants at the same resdue are P656A .P656L .P656Q .P656R .P656S .P656T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P656L Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

P656L 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 0.004 -6.89 probablydamaging 0.975 2.094 -1.83 -7 0.653

P656L 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
641 14.7
642 14.2
643 13.7
644 13.2
645 12.6
646 12
647 11.4 A647D A647S A647V
648 10.7 P648L
649 10.1 C649Y
650 9.3
651 8.5
652 7.6
653 6.6
654 5.4 E654K
655 3.8 E655K
657 3.8
658 5.4
659 6.6 R659Q R659W
660 7.6
661 8.5 R661W
662 9.3 A662S
663 10.1
664 10.7 S664G
665 11.4 A665S A665T
666 12
667 12.6
668 13.2 V668I
669 13.7
670 14.2
671 14.7