C326F Summary

SCN5A C326F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C326F is not present in gnomAD. C326F has been functionally characterized in 0 papers. Other variants at the same resdue are C326F .C326G .C326R .C326S .C326S .C326W .C326Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C326F 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 0.947

C326F has 54 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 13.1
275 11.2
276 11 L276Q
277 12.7
278 7.2
279 7.9
280 4.9
281 9.4 V281M
282 12.9 R282C R282H
283 14
320 14.2 T320N
321 13.4
322 13
323 8.4
324 6.9
325 5.1
327 3.8
328 7.7
329 9.3
330 12.1
331 11.8
332 7.2 A332T
333 5.9
334 4.8
335 5.3 C335R
336 7.5 P336L
337 12.7
338 11.5
339 9.1
340 10.6 R340Q R340W
341 6.3 C341Y
342 9.4
343 12.6
344 12.1
345 14.1
347 14.2
348 12.6
378 15
379 12.1
380 10.2
381 11
382 10.8
383 5.5
384 6.5
385 9.5 A385T
386 10.9 G386E G386R G386R
387 14.2
389 14.8
1684 15
1689 10.5
1690 11.9 D1690N
1691 10.1
1692 12.8