Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3204 | 9835;9836;9837 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
| N2AB | 3204 | 9835;9836;9837 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
| N2A | 3204 | 9835;9836;9837 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
| N2B | 3158 | 9697;9698;9699 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
| Novex-1 | 3158 | 9697;9698;9699 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
| Novex-2 | 3158 | 9697;9698;9699 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
| Novex-3 | 3204 | 9835;9836;9837 | chr2:178766474;178766473;178766472 | chr2:179631201;179631200;179631199 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.975 | D | 0.677 | 0.531 | 0.558695339455 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79866E-06 | 0 | 0 |
| R/L | None | None | 0.975 | D | 0.677 | 0.54 | 0.626127536812 | gnomAD-4.0.0 | 6.84086E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99318E-07 | 0 | 0 |
| R/Q | rs775137389  |
-0.872 | 0.997 | N | 0.633 | 0.305 | None | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 5.78E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/Q | rs775137389 |
-0.872 | 0.997 | N | 0.633 | 0.305 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs775137389 |
-0.872 | 0.997 | N | 0.633 | 0.305 | None | gnomAD-4.0.0 | 9.91338E-06 | None | None | None | None | N | None | 1.33486E-05 | 1.66683E-05 | None | 0 | 1.33708E-04 | None | 0 | 0 | 5.93224E-06 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9281 | likely_pathogenic | 0.9629 | pathogenic | -1.613 | Destabilizing | 0.953 | D | 0.627 | neutral | None | None | None | None | N |
| R/C | 0.6464 | likely_pathogenic | 0.7332 | pathogenic | -1.615 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| R/D | 0.9887 | likely_pathogenic | 0.9941 | pathogenic | -0.549 | Destabilizing | 0.986 | D | 0.731 | prob.delet. | None | None | None | None | N |
| R/E | 0.8128 | likely_pathogenic | 0.8957 | pathogenic | -0.332 | Destabilizing | 0.91 | D | 0.589 | neutral | None | None | None | None | N |
| R/F | 0.98 | likely_pathogenic | 0.9901 | pathogenic | -0.854 | Destabilizing | 0.998 | D | 0.76 | deleterious | None | None | None | None | N |
| R/G | 0.909 | likely_pathogenic | 0.9514 | pathogenic | -1.987 | Destabilizing | 0.975 | D | 0.677 | prob.neutral | D | 0.620754121 | None | None | N |
| R/H | 0.3581 | ambiguous | 0.4733 | ambiguous | -1.739 | Destabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| R/I | 0.8616 | likely_pathogenic | 0.922 | pathogenic | -0.544 | Destabilizing | 0.993 | D | 0.766 | deleterious | None | None | None | None | N |
| R/K | 0.291 | likely_benign | 0.3398 | benign | -1.146 | Destabilizing | 0.06 | N | 0.358 | neutral | None | None | None | None | N |
| R/L | 0.8451 | likely_pathogenic | 0.9116 | pathogenic | -0.544 | Destabilizing | 0.975 | D | 0.677 | prob.neutral | D | 0.537860376 | None | None | N |
| R/M | 0.8757 | likely_pathogenic | 0.9379 | pathogenic | -1.083 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| R/N | 0.9637 | likely_pathogenic | 0.9811 | pathogenic | -1.107 | Destabilizing | 0.986 | D | 0.623 | neutral | None | None | None | None | N |
| R/P | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -0.886 | Destabilizing | 0.996 | D | 0.74 | deleterious | D | 0.622118148 | None | None | N |
| R/Q | 0.2055 | likely_benign | 0.2856 | benign | -1.02 | Destabilizing | 0.997 | D | 0.633 | neutral | N | 0.50646609 | None | None | N |
| R/S | 0.9215 | likely_pathogenic | 0.957 | pathogenic | -2.028 | Highly Destabilizing | 0.953 | D | 0.655 | neutral | None | None | None | None | N |
| R/T | 0.7834 | likely_pathogenic | 0.8721 | pathogenic | -1.587 | Destabilizing | 0.986 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/V | 0.8768 | likely_pathogenic | 0.9209 | pathogenic | -0.886 | Destabilizing | 0.993 | D | 0.754 | deleterious | None | None | None | None | N |
| R/W | 0.7619 | likely_pathogenic | 0.8744 | pathogenic | -0.326 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| R/Y | 0.9227 | likely_pathogenic | 0.9547 | pathogenic | -0.17 | Destabilizing | 0.998 | D | 0.753 | deleterious | 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.