A665G Summary

SCN5A A665G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A665G is not present in gnomAD. A665G has been functionally characterized in 0 papers. Other variants at the same resdue are A665E .A665G .A665P .A665S .A665T .A665V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A665G 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	0.593

A665G 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
650	14.7
651	14.2
652	13.7
653	13.2
654	12.6	E654K
655	12	E655K
656	11.4	P656L
657	10.7
658	10.1
659	9.3	R659Q R659W
660	8.5
661	7.6	R661W
662	6.6	A662S
663	5.4
664	3.8	S664G
666	3.8
667	5.4
668	6.6	V668I
669	7.6
670	8.5
671	9.3
672	10.1	A672T
673	10.7
674	11.4
675	12
676	12.6
677	13.2
678	13.7
679	14.2
680	14.7	R680C