D305E Summary

SCN5A D305E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D305E is not present in gnomAD. D305E 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.

D305E 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	0.31

D305E 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