D310N Summary

SCN5A D310N was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D310N is present in 1 out of 248076 alleles in gnomAD (minor allele frequency of 0.000403%). D310N 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.

D310N 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
Tolerated	0.47	-1.29	possiblydamaging	0.684	3.607	2.6	2	0.319

D310N 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