A586G Summary

SCN5A A586G was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A586G is present in 1 out of 248350 alleles in gnomAD (minor allele frequency of 0.000403%). A586G has been functionally characterized in 0 papers. Other variants at the same resdue are A586D .A586G .A586P .A586S .A586T .A586V .p.586_587delAL .p.586_587delAL .p.586_587delAL .p.586_587delAL . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A586G 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 0.163 -0.72 benign 0.106 3.279 -0.91 -2 0.413

A586G 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
571 14.7 S571I
572 14.2 A572D A572F A572S A572V
573 13.7 Q573E
574 13.2
575 12.6
576 12
577 11.4
578 10.7
579 10.1 G579R G579R
580 9.3
581 8.5 S581L
582 7.6
583 6.6
584 5.4 G584R
585 3.8
587 3.8
588 5.4
589 6.6
590 7.6
591 8.5
592 9.3 N592K N592K N592S
593 10.1
594 10.7
595 11.4
596 12
597 12.6
598 13.2
599 13.7 G599R G599R
600 14.2
601 14.7