C341F Summary

SCN5A C341F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C341F is not present in gnomAD. C341F has been functionally characterized in 0 papers. Other variants at the same resdue are C341F .C341G .C341R .C341S .C341S .C341W .C341Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

C341F 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	0.938

C341F has 44 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
272	14.9
274	11.1
275	9.9
276	11.8	L276Q
277	11
278	5.3
279	7.5
280	6.3
281	7.2	V281M
282	12.3	R282C R282H
283	10.9
319	14.6	G319S
320	12.7	T320N
321	13.8
323	11
324	11.7
325	8.9
326	6.3
327	5.2
328	6.4
329	10.3
330	13.9
332	10.8	A332T
333	10.9
334	9.1
335	7.6	C335R
336	10.1	P336L
337	13.3
338	10.6
339	9.6
340	6.1	R340Q R340W
342	4.3
343	8.4
344	9.1
345	12.2
347	14.7
348	14.6
380	14.2
381	13.9
382	14.7
383	11.2
384	8.5
385	10.8	A385T
386	13.5	G386E G386R G386R