Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29445 | 88558;88559;88560 | chr2:178555126;178555125;178555124 | chr2:179419853;179419852;179419851 |
| N2AB | 27804 | 83635;83636;83637 | chr2:178555126;178555125;178555124 | chr2:179419853;179419852;179419851 |
| N2A | 26877 | 80854;80855;80856 | chr2:178555126;178555125;178555124 | chr2:179419853;179419852;179419851 |
| N2B | 20380 | 61363;61364;61365 | chr2:178555126;178555125;178555124 | chr2:179419853;179419852;179419851 |
| Novex-1 | 20505 | 61738;61739;61740 | chr2:178555126;178555125;178555124 | chr2:179419853;179419852;179419851 |
| Novex-2 | 20572 | 61939;61940;61941 | chr2:178555126;178555125;178555124 | chr2:179419853;179419852;179419851 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1391026926  |
-0.317 | 0.999 | N | 0.527 | 0.208 | 0.418221603839 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| E/D | rs1391026926 |
-0.317 | 0.999 | N | 0.527 | 0.208 | 0.418221603839 | 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 |
| E/D | rs1391026926 |
-0.317 | 0.999 | N | 0.527 | 0.208 | 0.418221603839 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.591 | 0.281 | 0.388495093706 | gnomAD-4.0.0 | 1.59788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86244E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2304 | likely_benign | 0.2014 | benign | -0.265 | Destabilizing | 0.999 | D | 0.643 | neutral | N | 0.485649599 | None | None | N |
| E/C | 0.9011 | likely_pathogenic | 0.891 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| E/D | 0.2591 | likely_benign | 0.2268 | benign | -0.358 | Destabilizing | 0.999 | D | 0.527 | neutral | N | 0.46471418 | None | None | N |
| E/F | 0.908 | likely_pathogenic | 0.8848 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| E/G | 0.3932 | ambiguous | 0.3239 | benign | -0.467 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.515703147 | None | None | N |
| E/H | 0.6978 | likely_pathogenic | 0.6638 | pathogenic | 0.619 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| E/I | 0.5367 | ambiguous | 0.5117 | ambiguous | 0.239 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/K | 0.4102 | ambiguous | 0.3654 | ambiguous | 0.23 | Stabilizing | 0.999 | D | 0.625 | neutral | N | 0.450112874 | None | None | N |
| E/L | 0.6775 | likely_pathogenic | 0.6314 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/M | 0.704 | likely_pathogenic | 0.6678 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| E/N | 0.5537 | ambiguous | 0.5017 | ambiguous | -0.261 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| E/P | 0.6312 | likely_pathogenic | 0.6029 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| E/Q | 0.2303 | likely_benign | 0.2094 | benign | -0.177 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.428929525 | None | None | N |
| E/R | 0.5273 | ambiguous | 0.4887 | ambiguous | 0.638 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| E/S | 0.4007 | ambiguous | 0.3613 | ambiguous | -0.417 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| E/T | 0.4347 | ambiguous | 0.397 | ambiguous | -0.232 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| E/V | 0.386 | ambiguous | 0.3535 | ambiguous | 0.09 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.515876506 | None | None | N |
| E/W | 0.9602 | likely_pathogenic | 0.9489 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| E/Y | 0.8344 | likely_pathogenic | 0.8006 | pathogenic | 0.317 | Stabilizing | 1.0 | D | 0.672 | 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.