Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3397 | 10414;10415;10416 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
| N2AB | 3397 | 10414;10415;10416 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
| N2A | 3397 | 10414;10415;10416 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
| N2B | 3351 | 10276;10277;10278 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
| Novex-1 | 3351 | 10276;10277;10278 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
| Novex-2 | 3351 | 10276;10277;10278 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
| Novex-3 | 3397 | 10414;10415;10416 | chr2:178759098;178759097;178759096 | chr2:179623825;179623824;179623823 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs759238193  |
-0.732 | 0.998 | D | 0.701 | 0.752 | 0.683586615836 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| D/A | rs759238193 |
-0.732 | 0.998 | D | 0.701 | 0.752 | 0.683586615836 | gnomAD-4.0.0 | 1.59074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8569E-06 | 0 | 0 |
| D/E | rs773862320 |
-0.48 | 0.619 | N | 0.314 | 0.426 | 0.307966526162 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| D/E | rs773862320 |
-0.48 | 0.619 | N | 0.314 | 0.426 | 0.307966526162 | gnomAD-4.0.0 | 6.15703E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.9562E-05 | 4.96787E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5261 | ambiguous | 0.6297 | pathogenic | -0.783 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | D | 0.604347406 | None | None | N |
| D/C | 0.9438 | likely_pathogenic | 0.9477 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| D/E | 0.3381 | likely_benign | 0.4659 | ambiguous | -0.786 | Destabilizing | 0.619 | D | 0.314 | neutral | N | 0.515376868 | None | None | N |
| D/F | 0.9188 | likely_pathogenic | 0.9369 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/G | 0.2849 | likely_benign | 0.3561 | ambiguous | -1.139 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | N | 0.498594193 | None | None | N |
| D/H | 0.6701 | likely_pathogenic | 0.7527 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.614634039 | None | None | N |
| D/I | 0.8845 | likely_pathogenic | 0.9262 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/K | 0.7532 | likely_pathogenic | 0.8461 | pathogenic | -0.71 | Destabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/L | 0.8416 | likely_pathogenic | 0.8912 | pathogenic | 0.17 | Stabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| D/M | 0.9254 | likely_pathogenic | 0.9482 | pathogenic | 0.659 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/N | 0.1641 | likely_benign | 0.2102 | benign | -1.111 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | N | 0.513283971 | None | None | N |
| D/P | 0.9599 | likely_pathogenic | 0.9791 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/Q | 0.7258 | likely_pathogenic | 0.8201 | pathogenic | -0.971 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| D/R | 0.8063 | likely_pathogenic | 0.8673 | pathogenic | -0.5 | Destabilizing | 0.998 | D | 0.758 | deleterious | None | None | None | None | N |
| D/S | 0.3298 | likely_benign | 0.4236 | ambiguous | -1.403 | Destabilizing | 0.994 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/T | 0.631 | likely_pathogenic | 0.7293 | pathogenic | -1.112 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| D/V | 0.7112 | likely_pathogenic | 0.7896 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.59447124 | None | None | N |
| D/W | 0.9837 | likely_pathogenic | 0.9855 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/Y | 0.5527 | ambiguous | 0.5864 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.615375109 | 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.