C280R Summary

SCN5A C280R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C280R is not present in gnomAD. C280R has been functionally characterized in 0 papers. Other variants at the same resdue are C280F .C280G .C280R .C280S .C280S .C280W .C280Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C280R 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 0.974

C280R has 47 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
274 14
275 13.3
276 12.6 L276Q
277 12.2
278 8.3
279 5.4
281 5 V281M
282 8.5 R282C R282H
283 10.3
284 13.3
285 14.4
317 14.6
319 11.3 G319S
320 9.7 T320N
321 9.4
322 10.2
323 5.9
324 6.9
325 7
326 4.9
327 7.6
328 11
329 13.7
332 12.1 A332T
333 10.5
334 8.7
335 6.7 C335R
336 7 P336L
337 11.8
338 9.1
339 6
340 8.2 R340Q R340W
341 6.3 C341Y
342 7.2
343 11.8
344 9.7
345 11.6
346 13.8 E346K
347 13.5
348 12.4
380 12.5
381 14.5
383 9.5
384 10.1
385 13.6 A385T
1689 13.6
1691 14.5