Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18077 | 54454;54455;54456 | chr2:178604860;178604859;178604858 | chr2:179469587;179469586;179469585 |
| N2AB | 16436 | 49531;49532;49533 | chr2:178604860;178604859;178604858 | chr2:179469587;179469586;179469585 |
| N2A | 15509 | 46750;46751;46752 | chr2:178604860;178604859;178604858 | chr2:179469587;179469586;179469585 |
| N2B | 9012 | 27259;27260;27261 | chr2:178604860;178604859;178604858 | chr2:179469587;179469586;179469585 |
| Novex-1 | 9137 | 27634;27635;27636 | chr2:178604860;178604859;178604858 | chr2:179469587;179469586;179469585 |
| Novex-2 | 9204 | 27835;27836;27837 | chr2:178604860;178604859;178604858 | chr2:179469587;179469586;179469585 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1261779331  |
-1.575 | 1.0 | N | 0.661 | 0.479 | 0.738040662849 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1261779331 |
-1.575 | 1.0 | N | 0.661 | 0.479 | 0.738040662849 | gnomAD-4.0.0 | 1.59431E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78489E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.993 | N | 0.277 | 0.239 | 0.499535901811 | gnomAD-4.0.0 | 2.73908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69999E-06 | 0 | 1.65843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7863 | likely_pathogenic | 0.8035 | pathogenic | -1.883 | Destabilizing | 0.999 | D | 0.475 | neutral | None | None | None | None | N |
| I/C | 0.8513 | likely_pathogenic | 0.8604 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| I/D | 0.9771 | likely_pathogenic | 0.9806 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| I/E | 0.9156 | likely_pathogenic | 0.9217 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| I/F | 0.5033 | ambiguous | 0.5274 | ambiguous | -1.443 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.479387863 | None | None | N |
| I/G | 0.9435 | likely_pathogenic | 0.9477 | pathogenic | -2.22 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| I/H | 0.9172 | likely_pathogenic | 0.9207 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| I/K | 0.7188 | likely_pathogenic | 0.7189 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| I/L | 0.2579 | likely_benign | 0.2432 | benign | -1.013 | Destabilizing | 0.993 | D | 0.271 | neutral | N | 0.511555616 | None | None | N |
| I/M | 0.2099 | likely_benign | 0.2022 | benign | -0.855 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.490148284 | None | None | N |
| I/N | 0.8143 | likely_pathogenic | 0.8309 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.504364972 | None | None | N |
| I/P | 0.9217 | likely_pathogenic | 0.8992 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| I/Q | 0.8356 | likely_pathogenic | 0.8307 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| I/R | 0.6752 | likely_pathogenic | 0.6767 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| I/S | 0.7901 | likely_pathogenic | 0.8094 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.475157901 | None | None | N |
| I/T | 0.5577 | ambiguous | 0.5943 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.510824898 | None | None | N |
| I/V | 0.0859 | likely_benign | 0.0947 | benign | -1.274 | Destabilizing | 0.993 | D | 0.277 | neutral | N | 0.461278725 | None | None | N |
| I/W | 0.9424 | likely_pathogenic | 0.9421 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/Y | 0.8647 | likely_pathogenic | 0.8744 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.745 | 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.