H585Y Summary

SCN5A H585Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H585Y is not present in gnomAD. H585Y has been functionally characterized in 0 papers. Other variants at the same resdue are H585D .H585L .H585N .H585P .H585Q .H585Q .H585R .H585Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

H585Y 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 0.239

H585Y 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
570 14.7 T570N
571 14.2 S571I
572 13.7 A572D A572F A572S A572V
573 13.2 Q573E
574 12.6
575 12
576 11.4
577 10.7
578 10.1
579 9.3 G579R G579R
580 8.5
581 7.6 S581L
582 6.6
583 5.4
584 3.8 G584R
586 3.8 A586T
587 5.4
588 6.6
589 7.6
590 8.5
591 9.3
592 10.1 N592K N592K N592S
593 10.7
594 11.4
595 12
596 12.6
597 13.2
598 13.7
599 14.2 G599R G599R
600 14.7