D608N Summary

SCN5A D608N was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D608N is present in 2 out of 215216 alleles in gnomAD (minor allele frequency of 0.000929%). D608N has been functionally characterized in 0 papers. Other variants at the same resdue are D608A .D608E .D608E .D608G .D608H .D608N .D608V .D608Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D608N 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 0.167 -0.28 possiblydamaging 0.826 1.883 0.36 2 0.171

D608N 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
593 14.7
594 14.2
595 13.7
596 13.2
597 12.6
598 12
599 11.4 G599R G599R
600 10.7
601 10.1
602 9.3
603 8.5
604 7.6 L604V
605 6.6
606 5.4
607 3.8 G607V
609 3.8
610 5.4
611 6.6
612 7.6
613 8.5
614 9.3
615 10.1 G615E
616 10.7
617 11.4
618 12 L618F
619 12.6 L619F
620 13.2 R620C R620H
621 13.7
622 14.2
623 14.7