H588Y Summary

SCN5A H588Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H588Y is not present in gnomAD. H588Y has been functionally characterized in 0 papers. Other variants at the same resdue are H588D .H588L .H588N .H588P .H588Q .H588Q .H588R .H588Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

H588Y 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 0.445

H588Y 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
573 14.7 Q573E
574 14.2
575 13.7
576 13.2
577 12.6
578 12
579 11.4 G579R G579R
580 10.7
581 10.1 S581L
582 9.3
583 8.5
584 7.6 G584R
585 6.6
586 5.4 A586T
587 3.8
589 3.8
590 5.4
591 6.6
592 7.6 N592K N592K N592S
593 8.5
594 9.3
595 10.1
596 10.7
597 11.4
598 12
599 12.6 G599R G599R
600 13.2
601 13.7
602 14.2
603 14.7