Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2782 | 8569;8570;8571 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
| N2AB | 2782 | 8569;8570;8571 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
| N2A | 2782 | 8569;8570;8571 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
| N2B | 2736 | 8431;8432;8433 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
| Novex-1 | 2736 | 8431;8432;8433 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
| Novex-2 | 2736 | 8431;8432;8433 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
| Novex-3 | 2782 | 8569;8570;8571 | chr2:178770448;178770447;178770446 | chr2:179635175;179635174;179635173 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs2091296407  |
None | 1.0 | D | 0.564 | 0.558 | 0.574670332726 | gnomAD-4.0.0 | 1.36814E-06 | None | None | None | None | N | None | 0 | 4.47247E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs774178619 |
-0.454 | 1.0 | D | 0.641 | 0.713 | 0.883605920394 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| G/R | rs774178619 |
-0.454 | 1.0 | D | 0.641 | 0.713 | 0.883605920394 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.682 | 0.751 | 0.938928030228 | gnomAD-4.0.0 | 6.84072E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99292E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5075 | ambiguous | 0.5848 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.564 | neutral | D | 0.65589521 | None | None | N |
| G/C | 0.7627 | likely_pathogenic | 0.8352 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/D | 0.6393 | likely_pathogenic | 0.7354 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| G/E | 0.7225 | likely_pathogenic | 0.8206 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.645 | neutral | D | 0.634926887 | None | None | N |
| G/F | 0.945 | likely_pathogenic | 0.9697 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| G/H | 0.8594 | likely_pathogenic | 0.9136 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| G/I | 0.9211 | likely_pathogenic | 0.9548 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/K | 0.8726 | likely_pathogenic | 0.9198 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/L | 0.8877 | likely_pathogenic | 0.925 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/M | 0.9396 | likely_pathogenic | 0.9636 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/N | 0.7282 | likely_pathogenic | 0.7744 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| G/P | 0.9524 | likely_pathogenic | 0.9713 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| G/Q | 0.7828 | likely_pathogenic | 0.8527 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| G/R | 0.7754 | likely_pathogenic | 0.8641 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.641 | neutral | D | 0.696203096 | None | None | N |
| G/S | 0.3416 | ambiguous | 0.3966 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| G/T | 0.7924 | likely_pathogenic | 0.8541 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/V | 0.8524 | likely_pathogenic | 0.9129 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | D | 0.694997864 | None | None | N |
| G/W | 0.8882 | likely_pathogenic | 0.9435 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/Y | 0.9057 | likely_pathogenic | 0.9522 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.636 | 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.