S357A Summary

SCN5A S357A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S357A is not present in gnomAD. S357A has been functionally characterized in 0 papers. Other variants at the same resdue are S357A .S357C .S357F .S357P .S357T .S357Y . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

S357A 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 0.663

S357A has 53 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
261 13.9
262 12.6
263 14.6 V263I
264 14.9
265 9.2
266 10.1
267 12.9
268 9.8
269 6.6
270 10.6 Q270K
271 13.3
272 11.8
273 8.5
274 10.5
275 13.2
276 12.1 L276Q
277 11.3
343 14.5
345 14.9
346 13.7 E346K
347 11.7
348 14.4
351 11.2 G351S G351V
352 10.3
353 10.7 T353I
354 7.4
355 7.9 F355I
356 4 D356N
358 5.5
359 4.7
360 5.8
361 6.1
362 9.6
363 10.1
364 10.6
365 12.2
904 14.4
907 14.8
912 12.8 Q912R
916 14.5
1542 14.7
1543 13.4 V1543A V1543L V1543L
1544 13.8
1545 12.4
1546 9.1
1547 9.1
1548 9 E1548K G1548K
1549 6.4
1550 8.6
1551 11.8 D1551N
1552 10.6
1553 14.7
1556 14.2