D305H Summary

SCN5A D305H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D305H is not present in gnomAD. D305H has been functionally characterized in 0 papers. Other variants at the same resdue are D305A .D305E .D305E .D305G .D305H .D305N .D305V .D305Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D305H 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 0.583

D305H 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
290 14.7
291 14.2 N291H N291S
292 13.7 G292S
293 13.2
294 12.6 V294M
295 12
296 11.4
297 10.7
298 10.1 G298D G298S
299 9.3 L299F L299F L299M
300 8.5 V300I
301 7.6
302 6.6
303 5.4
304 3.8
306 3.8 L306V
307 5.4
308 6.6
309 7.6
310 8.5
311 9.3
312 10.1
313 10.7
314 11.4
315 12
316 12.6
317 13.2
318 13.7
319 14.2 G319S
320 14.7 T320N