C335F Summary

SCN5A C335F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C335F is not present in gnomAD. C335F has been functionally characterized in 0 papers. Other variants at the same resdue are C335F .C335G .C335R .C335S .C335S .C335W .C335Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C335F 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	0.919

C335F has 34 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
278	11.2
279	11.5
280	6.7
281	9.8	V281M
282	11.3	R282C R282H
283	12
284	14.7
323	11.9
324	10.7
325	10.3
326	5.3
327	6.5
328	8.4
329	10.5
330	12.4
331	12.3
332	9.1	A332T
333	7.2
334	4.1
336	3.7	P336L
337	7.7
338	7.7
339	6.5
340	9	R340Q R340W
341	7.6	C341Y
342	11
382	14.7
383	9.7
384	11
385	13.2	A385T
386	14.2	G386E G386R G386R
1689	12.6
1690	11.8	D1690N
1691	12.1