A447T Summary

SCN5A A447T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A447T is not present in gnomAD. A447T has been functionally characterized in 0 papers. Other variants at the same resdue are A447D .A447G .A447P .A447S .A447T .A447V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A447T 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	0.529

A447T 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
432	14.7
433	14.2	R433C
434	13.7
435	13.2
436	12.6
437	12
438	11.4
439	10.7
440	10.1
441	9.3
442	8.5
443	7.6
444	6.6
445	5.4	H445D
446	3.8	E446K
448	3.8
449	5.4	T449A
450	6.6
451	7.6
452	8.5
453	9.3	V453M
454	10.1
455	10.7
456	11.4	V456M
457	12
458	12.6	R458C R458H
459	13.2
460	13.7
461	14.2	L461V
462	14.7	E462K