Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17058 | 51397;51398;51399 | chr2:178610354;178610353;178610352 | chr2:179475081;179475080;179475079 |
| N2AB | 15417 | 46474;46475;46476 | chr2:178610354;178610353;178610352 | chr2:179475081;179475080;179475079 |
| N2A | 14490 | 43693;43694;43695 | chr2:178610354;178610353;178610352 | chr2:179475081;179475080;179475079 |
| N2B | 7993 | 24202;24203;24204 | chr2:178610354;178610353;178610352 | chr2:179475081;179475080;179475079 |
| Novex-1 | 8118 | 24577;24578;24579 | chr2:178610354;178610353;178610352 | chr2:179475081;179475080;179475079 |
| Novex-2 | 8185 | 24778;24779;24780 | chr2:178610354;178610353;178610352 | chr2:179475081;179475080;179475079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | None | None | 0.667 | N | 0.606 | 0.395 | 0.32082282376 | gnomAD-4.0.0 | 2.73867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59971E-06 | 0 | 0 |
| D/N | None | None | 0.22 | N | 0.566 | 0.277 | 0.253726318573 | gnomAD-4.0.0 | 3.42334E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49964E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3647 | ambiguous | 0.2649 | benign | -0.197 | Destabilizing | 0.124 | N | 0.537 | neutral | N | 0.48082956 | None | None | N |
| D/C | 0.8359 | likely_pathogenic | 0.7746 | pathogenic | 0.186 | Stabilizing | 0.968 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/E | 0.1438 | likely_benign | 0.1172 | benign | -0.245 | Destabilizing | None | N | 0.123 | neutral | N | 0.430251363 | None | None | N |
| D/F | 0.879 | likely_pathogenic | 0.8009 | pathogenic | -0.283 | Destabilizing | 0.89 | D | 0.657 | neutral | None | None | None | None | N |
| D/G | 0.4282 | ambiguous | 0.3208 | benign | -0.363 | Destabilizing | 0.22 | N | 0.557 | neutral | N | 0.477129663 | None | None | N |
| D/H | 0.6535 | likely_pathogenic | 0.5243 | ambiguous | -0.124 | Destabilizing | 0.667 | D | 0.606 | neutral | N | 0.50896434 | None | None | N |
| D/I | 0.7219 | likely_pathogenic | 0.5857 | pathogenic | 0.182 | Stabilizing | 0.726 | D | 0.655 | neutral | None | None | None | None | N |
| D/K | 0.7582 | likely_pathogenic | 0.6286 | pathogenic | 0.452 | Stabilizing | 0.157 | N | 0.547 | neutral | None | None | None | None | N |
| D/L | 0.6721 | likely_pathogenic | 0.5449 | ambiguous | 0.182 | Stabilizing | 0.567 | D | 0.63 | neutral | None | None | None | None | N |
| D/M | 0.7998 | likely_pathogenic | 0.7036 | pathogenic | 0.338 | Stabilizing | 0.968 | D | 0.644 | neutral | None | None | None | None | N |
| D/N | 0.1841 | likely_benign | 0.1536 | benign | 0.236 | Stabilizing | 0.22 | N | 0.566 | neutral | N | 0.480702495 | None | None | N |
| D/P | 0.9744 | likely_pathogenic | 0.9407 | pathogenic | 0.077 | Stabilizing | 0.726 | D | 0.573 | neutral | None | None | None | None | N |
| D/Q | 0.5562 | ambiguous | 0.4333 | ambiguous | 0.246 | Stabilizing | 0.157 | N | 0.515 | neutral | None | None | None | None | N |
| D/R | 0.8232 | likely_pathogenic | 0.7092 | pathogenic | 0.531 | Stabilizing | 0.396 | N | 0.578 | neutral | None | None | None | None | N |
| D/S | 0.2757 | likely_benign | 0.2158 | benign | 0.137 | Stabilizing | 0.157 | N | 0.501 | neutral | None | None | None | None | N |
| D/T | 0.4606 | ambiguous | 0.3556 | ambiguous | 0.264 | Stabilizing | 0.272 | N | 0.554 | neutral | None | None | None | None | N |
| D/V | 0.5294 | ambiguous | 0.3877 | ambiguous | 0.077 | Stabilizing | 0.497 | N | 0.574 | neutral | N | 0.520903067 | None | None | N |
| D/W | 0.9776 | likely_pathogenic | 0.9597 | pathogenic | -0.202 | Destabilizing | 0.968 | D | 0.71 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6483 | likely_pathogenic | 0.5215 | ambiguous | -0.054 | Destabilizing | 0.859 | D | 0.661 | neutral | D | 0.578789536 | 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.