A672T Summary

SCN5A A672T was found in 2 papers (see below) with a total of 201 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. A672T is present in 199 out of 280286 alleles in gnomAD (minor allele frequency of 0.070999%). A672T 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.

A672T Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2363143020130010
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A672T 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
Tolerated 1 1.47 benign 0.005 1.813 0.44 -1 0.292

A672T 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