Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18695 | 56308;56309;56310 | chr2:178599818;178599817;178599816 | chr2:179464545;179464544;179464543 |
| N2AB | 17054 | 51385;51386;51387 | chr2:178599818;178599817;178599816 | chr2:179464545;179464544;179464543 |
| N2A | 16127 | 48604;48605;48606 | chr2:178599818;178599817;178599816 | chr2:179464545;179464544;179464543 |
| N2B | 9630 | 29113;29114;29115 | chr2:178599818;178599817;178599816 | chr2:179464545;179464544;179464543 |
| Novex-1 | 9755 | 29488;29489;29490 | chr2:178599818;178599817;178599816 | chr2:179464545;179464544;179464543 |
| Novex-2 | 9822 | 29689;29690;29691 | chr2:178599818;178599817;178599816 | chr2:179464545;179464544;179464543 |
| 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/K | rs752314096  |
0.13 | 0.998 | N | 0.566 | 0.473 | 0.499921029546 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.77E-05 | 0 |
| E/K | rs752314096 |
0.13 | 0.998 | N | 0.566 | 0.473 | 0.499921029546 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs752314096 |
0.13 | 0.998 | N | 0.566 | 0.473 | 0.499921029546 | gnomAD-4.0.0 | 1.37649E-05 | None | None | None | None | N | None | 1.35406E-05 | 3.50619E-05 | None | 0 | 0 | None | 0 | 0 | 1.61882E-05 | 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 | 0.3912 | ambiguous | 0.4624 | ambiguous | -0.525 | Destabilizing | 0.998 | D | 0.628 | neutral | N | 0.520938396 | None | None | N |
| E/C | 0.9625 | likely_pathogenic | 0.9705 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/D | 0.3824 | ambiguous | 0.4694 | ambiguous | -0.685 | Destabilizing | 0.434 | N | 0.257 | neutral | D | 0.531771465 | None | None | N |
| E/F | 0.9556 | likely_pathogenic | 0.964 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| E/G | 0.5922 | likely_pathogenic | 0.6964 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.642 | neutral | N | 0.491812531 | None | None | N |
| E/H | 0.8866 | likely_pathogenic | 0.9187 | pathogenic | 0.336 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| E/I | 0.689 | likely_pathogenic | 0.6933 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/K | 0.683 | likely_pathogenic | 0.7689 | pathogenic | -0.07 | Destabilizing | 0.998 | D | 0.566 | neutral | N | 0.50183256 | None | None | N |
| E/L | 0.7461 | likely_pathogenic | 0.7796 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/M | 0.7361 | likely_pathogenic | 0.7542 | pathogenic | 0.29 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| E/N | 0.6764 | likely_pathogenic | 0.7584 | pathogenic | -0.715 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/P | 0.9027 | likely_pathogenic | 0.9351 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| E/Q | 0.4248 | ambiguous | 0.4975 | ambiguous | -0.594 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.514185782 | None | None | N |
| E/R | 0.7772 | likely_pathogenic | 0.8436 | pathogenic | 0.37 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| E/S | 0.5625 | ambiguous | 0.6522 | pathogenic | -0.902 | Destabilizing | 0.997 | D | 0.596 | neutral | None | None | None | None | N |
| E/T | 0.4866 | ambiguous | 0.5626 | ambiguous | -0.642 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| E/V | 0.4271 | ambiguous | 0.4429 | ambiguous | 0.028 | Stabilizing | 1.0 | D | 0.673 | neutral | N | 0.473933883 | None | None | N |
| E/W | 0.9835 | likely_pathogenic | 0.9887 | pathogenic | 0.392 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9152 | likely_pathogenic | 0.9384 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.677 | prob.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.