A361D Summary

SCN5A A361D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A361D is not present in gnomAD. A361D has been functionally characterized in 0 papers. Other variants at the same resdue are A361D .A361G .A361P .A361S .A361T .A361V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A361D 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 0.98

A361D has 68 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
257 14.5
258 12.6
259 14.5
260 13.2
261 9
262 9.4
263 10.9 V263I
264 9.9
265 5
266 8.4
267 9.6
268 6.7
269 6.5
270 10.6 Q270K
271 11.3
272 9.4
273 10.3
274 11.7
275 12.9
276 10.9 L276Q
277 13.1
347 12.3
348 13.5
349 14.9 D349N
351 11.9 G351S G351V
352 10.8
353 8.8 T353I
354 6.7
355 4.6 F355I
356 7.4 D356N
357 6.1
358 5.3
359 5.2
360 6.3
362 5.4
363 6
364 5.2
365 6.1
366 9.7
367 9.9 R367C R367H
368 10.2
369 12.3 M369K
370 13.9 T370M
372 14.3
374 15
377 10.9
380 14.5
381 13.1
392 11.5
393 13
396 11.9
899 14
900 13.2
903 13.8
904 12.6
907 14.4
912 14 Q912R
916 12.8
920 14.4
1542 13.9
1543 14.7 V1543A V1543L V1543L
1545 13.1
1546 9.9
1547 13
1548 12.3 E1548K G1548K
1549 11.5
1550 12.7
1627 14.5