A332S Summary

SCN5A A332S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A332S is not present in gnomAD. A332S has been functionally characterized in 0 papers. Other variants at the same resdue are A332D .A332G .A332P .A332S .A332T .A332V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A332S 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 0.565

A332S has 48 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
272 13.5
275 11.7
276 12.7 L276Q
278 10.6
279 14.2
280 12.1
323 14.9
324 12.1
325 9.4
326 7.2
327 5.6
328 6.7
329 4.2
330 5.6
331 5.1
333 3.4
334 5.4
335 9.1 C335R
336 12.2 P336L
341 10.8 C341Y
342 14.7
378 11.8
379 11.2
380 11.6
381 9.4
382 6.8
383 6.3
384 6.4
385 6.1 A385T
386 5.5 G386E G386R G386R
387 7.3
388 9.4
389 10.1
390 12.6
393 14.8
1688 14.7
1689 10.4
1690 10.8 D1690N
1691 6.6
1692 9.8
1693 12.4
1695 14.6
1696 13.4
1697 14.8
1698 11.8 A1698T
1699 10.5
1702 11.2
1703 14.5