A586S Summary

SCN5A A586S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A586S is not present in gnomAD. A586S 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.

A586S 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	0.431

A586S 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