C341S Summary

SCN5A C341S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C341S is not present in gnomAD. C341S 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.

C341S 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 0.951

C341S 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