D322A Summary

SCN5A D322A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D322A is not present in gnomAD. D322A has been functionally characterized in 0 papers. Other variants at the same resdue are D322A .D322E .D322E .D322G .D322H .D322N .D322V .D322Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D322A 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 0.861

D322A has 36 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
276 13.4 L276Q
277 12.4
278 13.6
279 8.1
280 10.2
281 11.6 V281M
282 13.6 R282C R282H
317 14.1
318 14.7
319 11 G319S
320 8.8 T320N
321 4.4
323 4.6
324 7.7
325 10.2
326 13
339 14.3
342 13.9
344 11.1
345 9.8
346 9 E346K
347 9.4
348 8
349 8.6 D349N
350 10.6
351 11 G351S G351V
352 14.2
353 12.9 T353I
354 15
376 12.9 R376H
380 12
383 13.7
871 13.1
872 9.6 D872N
873 12.6
908 14.8