Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27308 | 82147;82148;82149 | chr2:178564210;178564209;178564208 | chr2:179428937;179428936;179428935 |
| N2AB | 25667 | 77224;77225;77226 | chr2:178564210;178564209;178564208 | chr2:179428937;179428936;179428935 |
| N2A | 24740 | 74443;74444;74445 | chr2:178564210;178564209;178564208 | chr2:179428937;179428936;179428935 |
| N2B | 18243 | 54952;54953;54954 | chr2:178564210;178564209;178564208 | chr2:179428937;179428936;179428935 |
| Novex-1 | 18368 | 55327;55328;55329 | chr2:178564210;178564209;178564208 | chr2:179428937;179428936;179428935 |
| Novex-2 | 18435 | 55528;55529;55530 | chr2:178564210;178564209;178564208 | chr2:179428937;179428936;179428935 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs1704782856  |
None | 0.188 | N | 0.615 | 0.154 | 0.582232187747 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs1704782856 |
None | 0.188 | N | 0.615 | 0.154 | 0.582232187747 | gnomAD-4.0.0 | 4.95833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93331E-06 | 0 | 1.60123E-05 |
| V/L | rs1704782856 |
None | None | N | 0.247 | 0.064 | 0.227934060464 | gnomAD-4.0.0 | 6.84317E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0887 | likely_benign | 0.0872 | benign | -1.501 | Destabilizing | None | N | 0.245 | neutral | N | 0.47343245 | None | None | N |
| V/C | 0.4248 | ambiguous | 0.4011 | ambiguous | -0.999 | Destabilizing | 0.935 | D | 0.573 | neutral | None | None | None | None | N |
| V/D | 0.1902 | likely_benign | 0.1806 | benign | -1.305 | Destabilizing | 0.317 | N | 0.628 | neutral | N | 0.501427128 | None | None | N |
| V/E | 0.1481 | likely_benign | 0.1393 | benign | -1.279 | Destabilizing | 0.149 | N | 0.605 | neutral | None | None | None | None | N |
| V/F | 0.0856 | likely_benign | 0.0824 | benign | -1.069 | Destabilizing | 0.188 | N | 0.615 | neutral | N | 0.459100503 | None | None | N |
| V/G | 0.136 | likely_benign | 0.1396 | benign | -1.848 | Destabilizing | 0.062 | N | 0.583 | neutral | N | 0.484060168 | None | None | N |
| V/H | 0.2312 | likely_benign | 0.2162 | benign | -1.359 | Destabilizing | 0.935 | D | 0.612 | neutral | None | None | None | None | N |
| V/I | 0.059 | likely_benign | 0.06 | benign | -0.638 | Destabilizing | None | N | 0.215 | neutral | N | 0.425257288 | None | None | N |
| V/K | 0.1571 | likely_benign | 0.1462 | benign | -1.257 | Destabilizing | 0.002 | N | 0.492 | neutral | None | None | None | None | N |
| V/L | 0.0881 | likely_benign | 0.0851 | benign | -0.638 | Destabilizing | None | N | 0.247 | neutral | N | 0.468181346 | None | None | N |
| V/M | 0.0788 | likely_benign | 0.0773 | benign | -0.5 | Destabilizing | 0.38 | N | 0.583 | neutral | None | None | None | None | N |
| V/N | 0.1154 | likely_benign | 0.1168 | benign | -1.097 | Destabilizing | 0.38 | N | 0.628 | neutral | None | None | None | None | N |
| V/P | 0.7778 | likely_pathogenic | 0.7734 | pathogenic | -0.89 | Destabilizing | 0.555 | D | 0.619 | neutral | None | None | None | None | N |
| V/Q | 0.1481 | likely_benign | 0.1413 | benign | -1.23 | Destabilizing | 0.38 | N | 0.62 | neutral | None | None | None | None | N |
| V/R | 0.1476 | likely_benign | 0.1393 | benign | -0.761 | Destabilizing | 0.235 | N | 0.625 | neutral | None | None | None | None | N |
| V/S | 0.0887 | likely_benign | 0.088 | benign | -1.652 | Destabilizing | 0.081 | N | 0.578 | neutral | None | None | None | None | N |
| V/T | 0.0785 | likely_benign | 0.0781 | benign | -1.512 | Destabilizing | 0.002 | N | 0.285 | neutral | None | None | None | None | N |
| V/W | 0.4979 | ambiguous | 0.4845 | ambiguous | -1.294 | Destabilizing | 0.935 | D | 0.643 | neutral | None | None | None | None | N |
| V/Y | 0.2639 | likely_benign | 0.2579 | benign | -0.988 | Destabilizing | 0.555 | D | 0.599 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.