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 |
|