A672S Summary

SCN5A A672S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A672S is present in 1 out of 248926 alleles in gnomAD (minor allele frequency of 0.000402%). A672S has been functionally characterized in 0 papers. Other variants at the same resdue are A672E .A672G .A672P .A672S .A672T .A672V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A672S 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	0.003	-0.67	benign	0.002	1.813	-0.02	0	0.386

A672S 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
657	14.7
658	14.2
659	13.7	R659Q R659W
660	13.2
661	12.6	R661W
662	12	A662S
663	11.4
664	10.7	S664G
665	10.1	A665S A665T
666	9.3
667	8.5
668	7.6	V668I
669	6.6
670	5.4
671	3.8
673	3.8
674	5.4
675	6.6
676	7.6
677	8.5
678	9.3
679	10.1
680	10.7	R680C
681	11.4
682	12
683	12.6	C683R
684	13.2
685	13.7
686	14.2
687	14.7