A265V Summary

SCN5A A265V was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A265V is present in 1 out of 249600 alleles in gnomAD (minor allele frequency of 0.000401%). A265V has been functionally characterized in 0 papers. Other variants at the same resdue are A265D .A265G .A265P .A265S .A265T .A265V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A265V 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
Damaging 0 -3.9 probablydamaging 1 0.1432 -4.62 -2 0.966

A265V has 67 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
256 14.4
257 12.1
258 10.3
259 10.4
260 9.3
261 6.5
262 5.4
263 6 V263I
264 5.7
266 4.5
267 5.6
268 5.2
269 6.1
270 8.7 Q270K
271 9.6
272 9.7
273 11.2
274 13.9
275 14.3
276 13.7 L276Q
353 13.2 T353I
354 10.9
355 7 F355I
356 10.7 D356N
357 9.2
358 5.6
359 8.6
360 11.1
361 5
362 6.3
363 9.8
364 8.2
365 5.8
366 10.6
367 12.5 R367C R367H
368 10.4
369 11.3 M369K
370 14.6 T370M
377 13.3
381 14.4
389 14.2
392 9.5
393 12.2
395 11.9
396 9.6
397 13.7 I397V
399 14.3
400 12.9 G400E G400R G400R
401 14.6
1539 14.5 C1539Y
1541 14
1542 9.8
1543 12 V1543A V1543L V1543L
1544 13.5
1545 10.1
1546 7.8
1547 12.5
1548 11.8 E1548K G1548K
1549 13
1550 14.9
1620 14.8 T1620K T1620M
1623 12.3 R1623L R1623Q
1624 12.1 V1624I
1626 14.3 R1626C R1626H R1626P
1627 9.9
1628 13.3
1630 12.8