C489W Summary

SCN5A C489W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C489W is not present in gnomAD. C489W has been functionally characterized in 0 papers. Other variants at the same resdue are C489F .C489G .C489R .C489S .C489S .C489W .C489Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C489W 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	0.293

C489W 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
474	14.7	R474K
475	14.2	R475K R475S R475S
476	13.7
477	13.2
478	12.6
479	12
480	11.4	K480N K480N
481	10.7	R481Q R481W
482	10.1
483	9.3
484	8.5
485	7.6
486	6.6
487	5.4
488	3.8
490	3.8
491	5.4
492	6.6
493	7.6	R493K
494	8.5
495	9.3
496	10.1
497	10.7
498	11.4
499	12
500	12.6
501	13.2
502	13.7
503	14.2
504	14.7	R504T