Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21223 | 63892;63893;63894 | chr2:178587642;178587641;178587640 | chr2:179452369;179452368;179452367 |
| N2AB | 19582 | 58969;58970;58971 | chr2:178587642;178587641;178587640 | chr2:179452369;179452368;179452367 |
| N2A | 18655 | 56188;56189;56190 | chr2:178587642;178587641;178587640 | chr2:179452369;179452368;179452367 |
| N2B | 12158 | 36697;36698;36699 | chr2:178587642;178587641;178587640 | chr2:179452369;179452368;179452367 |
| Novex-1 | 12283 | 37072;37073;37074 | chr2:178587642;178587641;178587640 | chr2:179452369;179452368;179452367 |
| Novex-2 | 12350 | 37273;37274;37275 | chr2:178587642;178587641;178587640 | chr2:179452369;179452368;179452367 |
| 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/G | None | None | 1.0 | N | 0.692 | 0.546 | 0.40146981186 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/H | rs753562502  |
0.417 | 1.0 | D | 0.646 | 0.502 | 0.400468435593 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.04015E-04 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs753562502 |
0.417 | 1.0 | D | 0.646 | 0.502 | 0.400468435593 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94628E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs753562502 |
0.417 | 1.0 | D | 0.646 | 0.502 | 0.400468435593 | gnomAD-4.0.0 | 2.48044E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.4825E-05 | None | 0 | 0 | 1.69575E-06 | 0 | 0 |
| D/N | None | None | 1.0 | D | 0.589 | 0.448 | 0.371157983038 | gnomAD-4.0.0 | 2.05389E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69919E-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 | 0.642 | likely_pathogenic | 0.5739 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.532942114 | None | None | I |
| D/C | 0.9443 | likely_pathogenic | 0.9291 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| D/E | 0.5508 | ambiguous | 0.4705 | ambiguous | -0.309 | Destabilizing | 1.0 | D | 0.404 | neutral | N | 0.419734038 | None | None | I |
| D/F | 0.929 | likely_pathogenic | 0.9083 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| D/G | 0.7106 | likely_pathogenic | 0.6369 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.489442219 | None | None | I |
| D/H | 0.7417 | likely_pathogenic | 0.6783 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.646 | neutral | D | 0.524015986 | None | None | I |
| D/I | 0.858 | likely_pathogenic | 0.8179 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| D/K | 0.898 | likely_pathogenic | 0.8629 | pathogenic | 0.008 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| D/L | 0.8443 | likely_pathogenic | 0.8091 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| D/M | 0.9346 | likely_pathogenic | 0.9194 | pathogenic | 0.527 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| D/N | 0.4098 | ambiguous | 0.3434 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.589 | neutral | D | 0.527344293 | None | None | I |
| D/P | 0.977 | likely_pathogenic | 0.9734 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/Q | 0.7985 | likely_pathogenic | 0.743 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| D/R | 0.8817 | likely_pathogenic | 0.8442 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| D/S | 0.4752 | ambiguous | 0.4056 | ambiguous | -0.716 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| D/T | 0.7406 | likely_pathogenic | 0.6771 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| D/V | 0.7085 | likely_pathogenic | 0.6459 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.516396581 | None | None | I |
| D/W | 0.9823 | likely_pathogenic | 0.98 | pathogenic | 0.412 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| D/Y | 0.6957 | likely_pathogenic | 0.6293 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.487645021 | None | None | I |
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.