D297V Summary

SCN5A D297V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D297V is not present in gnomAD. D297V has been functionally characterized in 0 papers. Other variants at the same resdue are D297A .D297E .D297E .D297G .D297H .D297N .D297V .D297Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D297V 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 0.62

D297V 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
282 14.7 R282C R282H
283 14.2
284 13.7
285 13.2
286 12.6 A286S A286V
287 12
288 11.4
289 10.7 G289S
290 10.1
291 9.3 N291H N291S
292 8.5 G292S
293 7.6
294 6.6 V294M
295 5.4
296 3.8
298 3.8 G298D G298S
299 5.4 L299F L299F L299M
300 6.6 V300I
301 7.6
302 8.5
303 9.3
304 10.1
305 10.7 D305N
306 11.4 L306V
307 12
308 12.6
309 13.2
310 13.7
311 14.2
312 14.7