A505E Summary

SCN5A A505E was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A505E is present in 1 out of 248522 alleles in gnomAD (minor allele frequency of 0.000402%). A505E has been functionally characterized in 0 papers. Other variants at the same resdue are A505E .A505G .A505P .A505S .A505T .A505V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A505E 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
Damaging	0.021	0.4	possiblydamaging	0.458	3.495	-0.78	-2	0.527

A505E 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
490	14.7
491	14.2
492	13.7
493	13.2	R493K
494	12.6
495	12
496	11.4
497	10.7
498	10.1
499	9.3
500	8.5
501	7.6
502	6.6
503	5.4
504	3.8	R504T
506	3.8	M506K
507	5.4
508	6.6
509	7.6
510	8.5
511	9.3
512	10.1	T512I
513	10.7	R513C
514	11.4	G514C
515	12
516	12.6
517	13.2
518	13.7
519	14.2
520	14.7	M520V