P583T Summary

SCN5A P583T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P583T is not present in gnomAD. P583T has been functionally characterized in 0 papers. Other variants at the same resdue are P583A .P583H .P583L .P583R .P583S .P583T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P583T 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 0.321

P583T 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
568 14.7 R568C R568H
569 14.2 R569Q R569W
570 13.7 T570N
571 13.2 S571I
572 12.6 A572D A572F A572S A572V
573 12 Q573E
574 11.4
575 10.7
576 10.1
577 9.3
578 8.5
579 7.6 G579R G579R
580 6.6
581 5.4 S581L
582 3.8
584 3.8 G584R
585 5.4
586 6.6 A586T
587 7.6
588 8.5
589 9.3
590 10.1
591 10.7
592 11.4 N592K N592K N592S
593 12
594 12.6
595 13.2
596 13.7
597 14.2
598 14.7