Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32752 | 98479;98480;98481 | chr2:178539811;178539810;178539809 | chr2:179404538;179404537;179404536 |
| N2AB | 31111 | 93556;93557;93558 | chr2:178539811;178539810;178539809 | chr2:179404538;179404537;179404536 |
| N2A | 30184 | 90775;90776;90777 | chr2:178539811;178539810;178539809 | chr2:179404538;179404537;179404536 |
| N2B | 23687 | 71284;71285;71286 | chr2:178539811;178539810;178539809 | chr2:179404538;179404537;179404536 |
| Novex-1 | 23812 | 71659;71660;71661 | chr2:178539811;178539810;178539809 | chr2:179404538;179404537;179404536 |
| Novex-2 | 23879 | 71860;71861;71862 | chr2:178539811;178539810;178539809 | chr2:179404538;179404537;179404536 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1239140833  |
-0.349 | 1.0 | N | 0.638 | 0.328 | 0.532359089423 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs1239140833 |
-0.349 | 1.0 | N | 0.638 | 0.328 | 0.532359089423 | gnomAD-4.0.0 | 3.18241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 0 |
| A/V | rs778166587 |
-0.074 | 1.0 | N | 0.599 | 0.318 | 0.606800358658 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| A/V | rs778166587 |
-0.074 | 1.0 | N | 0.599 | 0.318 | 0.606800358658 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6068 | likely_pathogenic | 0.6205 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| A/D | 0.7199 | likely_pathogenic | 0.7557 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| A/E | 0.6691 | likely_pathogenic | 0.7001 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.387141617 | None | None | N |
| A/F | 0.5716 | likely_pathogenic | 0.5958 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/G | 0.322 | likely_benign | 0.3455 | ambiguous | -0.567 | Destabilizing | 1.0 | D | 0.542 | neutral | N | 0.517359373 | None | None | N |
| A/H | 0.7557 | likely_pathogenic | 0.7769 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| A/I | 0.4569 | ambiguous | 0.4905 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/K | 0.8348 | likely_pathogenic | 0.8464 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/L | 0.3748 | ambiguous | 0.396 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| A/M | 0.445 | ambiguous | 0.4736 | ambiguous | -0.295 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| A/N | 0.5632 | ambiguous | 0.601 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/P | 0.9632 | likely_pathogenic | 0.9605 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.536118492 | None | None | N |
| A/Q | 0.6471 | likely_pathogenic | 0.6584 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/R | 0.7401 | likely_pathogenic | 0.748 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/S | 0.1499 | likely_benign | 0.1573 | benign | -0.632 | Destabilizing | 1.0 | D | 0.545 | neutral | N | 0.442456183 | None | None | N |
| A/T | 0.1672 | likely_benign | 0.1841 | benign | -0.708 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.438530443 | None | None | N |
| A/V | 0.2317 | likely_benign | 0.2496 | benign | -0.402 | Destabilizing | 1.0 | D | 0.599 | neutral | N | 0.457676351 | None | None | N |
| A/W | 0.9316 | likely_pathogenic | 0.9361 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/Y | 0.7296 | likely_pathogenic | 0.751 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.704 | 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.