Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
| N2AB | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
| N2A | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
| N2B | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
| Novex-1 | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
| Novex-2 | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
| Novex-3 | 143 | 652;653;654 | chr2:178800551;178800550;178800549 | chr2:179665278;179665277;179665276 |
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 | rs754182768  |
-0.033 | 0.998 | N | 0.528 | 0.444 | 0.433600339574 | gnomAD-2.1.1 | 3.58E-05 | None | None | None | -0.6(TCAP) | N | None | 0 | 8.67E-05 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 4.4E-05 | 0 |
| E/K | rs754182768 |
-0.033 | 0.998 | N | 0.528 | 0.444 | 0.433600339574 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -0.6(TCAP) | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs754182768 |
-0.033 | 0.998 | N | 0.528 | 0.444 | 0.433600339574 | gnomAD-4.0.0 | 3.71746E-05 | None | None | None | -0.6(TCAP) | N | None | 6.67414E-05 | 6.66667E-05 | None | 0 | 4.45534E-05 | None | 0 | 0 | 3.72877E-05 | 3.29388E-05 | 3.20092E-05 |
| E/V | None | None | 0.996 | N | 0.708 | 0.577 | 0.697057897476 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.31(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 | 0.5417 | ambiguous | 0.5341 | ambiguous | -0.714 | Destabilizing | 0.982 | D | 0.591 | neutral | N | 0.508935901 | None | -0.417(TCAP) | N |
| E/C | 0.9946 | likely_pathogenic | 0.9929 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | -0.6(TCAP) | N |
| E/D | 0.8198 | likely_pathogenic | 0.8135 | pathogenic | -0.78 | Destabilizing | 0.591 | D | 0.457 | neutral | D | 0.545259186 | None | -0.016(TCAP) | N |
| E/F | 0.9912 | likely_pathogenic | 0.99 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | -1.284(TCAP) | N |
| E/G | 0.8749 | likely_pathogenic | 0.8692 | pathogenic | -1.028 | Destabilizing | 0.994 | D | 0.58 | neutral | D | 0.611998678 | None | -0.478(TCAP) | N |
| E/H | 0.9831 | likely_pathogenic | 0.981 | pathogenic | 0.012 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | -0.099(TCAP) | N |
| E/I | 0.851 | likely_pathogenic | 0.8363 | pathogenic | 0.127 | Stabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | -0.266(TCAP) | N |
| E/K | 0.7798 | likely_pathogenic | 0.7782 | pathogenic | -0.296 | Destabilizing | 0.998 | D | 0.528 | neutral | N | 0.504380746 | None | -0.6(TCAP) | N |
| E/L | 0.8514 | likely_pathogenic | 0.8419 | pathogenic | 0.127 | Stabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | -0.266(TCAP) | N |
| E/M | 0.8783 | likely_pathogenic | 0.8701 | pathogenic | 0.265 | Stabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | 1.124(TCAP) | N |
| E/N | 0.9245 | likely_pathogenic | 0.9234 | pathogenic | -0.861 | Destabilizing | 0.174 | N | 0.27 | neutral | None | None | None | -1.088(TCAP) | N |
| E/P | 0.837 | likely_pathogenic | 0.8299 | pathogenic | -0.133 | Destabilizing | 0.995 | D | 0.696 | prob.neutral | None | None | None | -0.31(TCAP) | N |
| E/Q | 0.576 | likely_pathogenic | 0.5884 | pathogenic | -0.747 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.508486593 | None | -0.841(TCAP) | N |
| E/R | 0.9001 | likely_pathogenic | 0.9031 | pathogenic | 0.128 | Stabilizing | 0.998 | D | 0.622 | neutral | None | None | None | -0.276(TCAP) | N |
| E/S | 0.8465 | likely_pathogenic | 0.8467 | pathogenic | -1.08 | Destabilizing | 0.973 | D | 0.544 | neutral | None | None | None | -1.334(TCAP) | N |
| E/T | 0.8472 | likely_pathogenic | 0.8434 | pathogenic | -0.818 | Destabilizing | 0.997 | D | 0.632 | neutral | None | None | None | -1.291(TCAP) | N |
| E/V | 0.6641 | likely_pathogenic | 0.6414 | pathogenic | -0.133 | Destabilizing | 0.996 | D | 0.708 | prob.delet. | N | 0.51049657 | None | -0.31(TCAP) | N |
| E/W | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | -1.765(TCAP) | N |
| E/Y | 0.991 | likely_pathogenic | 0.9894 | pathogenic | 0.174 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | -1.317(TCAP) | 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.