Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2659 | 8200;8201;8202 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
| N2AB | 2659 | 8200;8201;8202 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
| N2A | 2659 | 8200;8201;8202 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
| N2B | 2613 | 8062;8063;8064 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
| Novex-1 | 2613 | 8062;8063;8064 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
| Novex-2 | 2613 | 8062;8063;8064 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
| Novex-3 | 2659 | 8200;8201;8202 | chr2:178771352;178771351;178771350 | chr2:179636079;179636078;179636077 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 0.997 | D | 0.754 | 0.552 | 0.898726940883 | gnomAD-4.0.0 | 6.84084E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99305E-07 | 0 | 0 |
| L/R | None | None | 0.997 | D | 0.707 | 0.55 | 0.872963886487 | gnomAD-4.0.0 | 6.84084E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99305E-07 | 0 | 0 |
| L/V | rs747894424  |
-1.652 | 0.17 | N | 0.282 | 0.142 | 0.336155897331 | gnomAD-2.1.1 | 2.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.28683E-04 | None | 0 | 0 | 0 |
| L/V | rs747894424 |
-1.652 | 0.17 | N | 0.282 | 0.142 | 0.336155897331 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| L/V | rs747894424 |
-1.652 | 0.17 | N | 0.282 | 0.142 | 0.336155897331 | gnomAD-4.0.0 | 2.16849E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.51339E-04 | 4.79923E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.5479 | ambiguous | 0.5572 | ambiguous | -2.563 | Highly Destabilizing | 0.953 | D | 0.487 | neutral | None | None | None | None | N |
| L/C | 0.6043 | likely_pathogenic | 0.6095 | pathogenic | -1.616 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| L/D | 0.9512 | likely_pathogenic | 0.9452 | pathogenic | -3.014 | Highly Destabilizing | 0.998 | D | 0.752 | deleterious | None | None | None | None | N |
| L/E | 0.7775 | likely_pathogenic | 0.7571 | pathogenic | -2.805 | Highly Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| L/F | 0.217 | likely_benign | 0.2302 | benign | -1.664 | Destabilizing | 0.986 | D | 0.594 | neutral | None | None | None | None | N |
| L/G | 0.8618 | likely_pathogenic | 0.8515 | pathogenic | -3.055 | Highly Destabilizing | 0.998 | D | 0.731 | prob.delet. | None | None | None | None | N |
| L/H | 0.5487 | ambiguous | 0.5337 | ambiguous | -2.426 | Highly Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| L/I | 0.0762 | likely_benign | 0.0828 | benign | -1.138 | Destabilizing | 0.046 | N | 0.359 | neutral | N | 0.484771496 | None | None | N |
| L/K | 0.728 | likely_pathogenic | 0.6883 | pathogenic | -2.097 | Highly Destabilizing | 0.993 | D | 0.689 | prob.neutral | None | None | None | None | N |
| L/M | 0.1606 | likely_benign | 0.1708 | benign | -0.873 | Destabilizing | 0.986 | D | 0.638 | neutral | None | None | None | None | N |
| L/N | 0.788 | likely_pathogenic | 0.7694 | pathogenic | -2.385 | Highly Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| L/P | 0.8399 | likely_pathogenic | 0.7979 | pathogenic | -1.597 | Destabilizing | 0.997 | D | 0.754 | deleterious | D | 0.714437467 | None | None | N |
| L/Q | 0.4856 | ambiguous | 0.4688 | ambiguous | -2.304 | Highly Destabilizing | 0.997 | D | 0.699 | prob.neutral | D | 0.714857638 | None | None | N |
| L/R | 0.639 | likely_pathogenic | 0.6064 | pathogenic | -1.744 | Destabilizing | 0.997 | D | 0.707 | prob.neutral | D | 0.676305 | None | None | N |
| L/S | 0.6709 | likely_pathogenic | 0.6678 | pathogenic | -2.985 | Highly Destabilizing | 0.993 | D | 0.677 | prob.neutral | None | None | None | None | N |
| L/T | 0.4847 | ambiguous | 0.4943 | ambiguous | -2.639 | Highly Destabilizing | 0.986 | D | 0.632 | neutral | None | None | None | None | N |
| L/V | 0.0989 | likely_benign | 0.1067 | benign | -1.597 | Destabilizing | 0.17 | N | 0.282 | neutral | N | 0.489957232 | None | None | N |
| L/W | 0.5517 | ambiguous | 0.524 | ambiguous | -2.024 | Highly Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| L/Y | 0.5772 | likely_pathogenic | 0.5695 | pathogenic | -1.735 | Destabilizing | 0.998 | D | 0.675 | 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.