D492N Summary

SCN5A D492N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D492N is not present in gnomAD. D492N has been functionally characterized in 0 papers. Other variants at the same resdue are D492A .D492E .D492E .D492G .D492H .D492N .D492V .D492Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D492N 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	0.232

D492N 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
477	14.7
478	14.2
479	13.7
480	13.2	K480N K480N
481	12.6	R481Q R481W
482	12
483	11.4
484	10.7
485	10.1
486	9.3
487	8.5
488	7.6
489	6.6
490	5.4
491	3.8
493	3.8	R493K
494	5.4
495	6.6
496	7.6
497	8.5
498	9.3
499	10.1
500	10.7
501	11.4
502	12
503	12.6
504	13.2	R504T
505	13.7
506	14.2	M506K
507	14.7