N592Y Summary

SCN5A N592Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N592Y is not present in gnomAD. N592Y has been functionally characterized in 0 papers. Other variants at the same resdue are N592D .N592H .N592I .N592K .N592K .N592S .N592T .N592Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N592Y 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
NA NA NA NA NA NA NA NA 0.666

N592Y 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
577 14.7
578 14.2
579 13.7 G579R G579R
580 13.2
581 12.6 S581L
582 12
583 11.4
584 10.7 G584R
585 10.1
586 9.3 A586T
587 8.5
588 7.6
589 6.6
590 5.4
591 3.8
593 3.8
594 5.4
595 6.6
596 7.6
597 8.5
598 9.3
599 10.1 G599R G599R
600 10.7
601 11.4
602 12
603 12.6
604 13.2 L604V
605 13.7
606 14.2
607 14.7 G607V