D310H Summary

SCN5A D310H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D310H is not present in gnomAD. D310H has been functionally characterized in 0 papers. Other variants at the same resdue are D310A .D310E .D310E .D310G .D310H .D310N .D310V .D310Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D310H 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 0.298

D310H 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
295 14.7
296 14.2
297 13.7
298 13.2 G298D G298S
299 12.6 L299F L299F L299M
300 12 V300I
301 11.4
302 10.7
303 10.1
304 9.3
305 8.5 D305N
306 7.6 L306V
307 6.6
308 5.4
309 3.8
311 3.8
312 5.4
313 6.6
314 7.6
315 8.5
316 9.3
317 10.1
318 10.7
319 11.4 G319S
320 12 T320N
321 12.6
322 13.2
323 13.7
324 14.2
325 14.7