C597Y Summary

SCN5A C597Y was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. C597Y is present in 1 out of 245068 alleles in gnomAD (minor allele frequency of 0.000408%). C597Y has been functionally characterized in 0 papers. Other variants at the same resdue are C597F .C597G .C597R .C597S .C597S .C597W .C597Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C597Y 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 0.002 -7.41 probablydamaging 0.998 1.745 -0.94 -4 0.669

C597Y 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
582 14.7
583 14.2
584 13.7 G584R
585 13.2
586 12.6 A586T
587 12
588 11.4
589 10.7
590 10.1
591 9.3
592 8.5 N592K N592K N592S
593 7.6
594 6.6
595 5.4
596 3.8
598 3.8
599 5.4 G599R G599R
600 6.6
601 7.6
602 8.5
603 9.3
604 10.1 L604V
605 10.7
606 11.4
607 12 G607V
608 12.6 D608N
609 13.2
610 13.7
611 14.2
612 14.7