Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2402 | 7429;7430;7431 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
| N2AB | 2402 | 7429;7430;7431 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
| N2A | 2402 | 7429;7430;7431 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
| N2B | 2356 | 7291;7292;7293 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
| Novex-1 | 2356 | 7291;7292;7293 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
| Novex-2 | 2356 | 7291;7292;7293 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
| Novex-3 | 2402 | 7429;7430;7431 | chr2:178773964;178773963;178773962 | chr2:179638691;179638690;179638689 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs776956593  |
0.157 | 1.0 | N | 0.741 | 0.366 | 0.668071495749 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| H/L | rs776956593 |
0.157 | 1.0 | N | 0.741 | 0.366 | 0.668071495749 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8267 | likely_pathogenic | 0.8437 | pathogenic | -0.913 | Destabilizing | 0.999 | D | 0.551 | neutral | None | None | None | None | N |
| H/C | 0.5372 | ambiguous | 0.5496 | ambiguous | -0.129 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| H/D | 0.7676 | likely_pathogenic | 0.8025 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.658 | neutral | D | 0.566441107 | None | None | N |
| H/E | 0.8028 | likely_pathogenic | 0.8164 | pathogenic | -0.294 | Destabilizing | 0.999 | D | 0.457 | neutral | None | None | None | None | N |
| H/F | 0.7311 | likely_pathogenic | 0.7304 | pathogenic | 0.384 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| H/G | 0.8546 | likely_pathogenic | 0.8789 | pathogenic | -1.295 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| H/I | 0.8158 | likely_pathogenic | 0.8252 | pathogenic | 0.151 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| H/K | 0.6634 | likely_pathogenic | 0.6876 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| H/L | 0.4831 | ambiguous | 0.5117 | ambiguous | 0.151 | Stabilizing | 1.0 | D | 0.741 | deleterious | N | 0.508765464 | None | None | N |
| H/M | 0.8548 | likely_pathogenic | 0.8604 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| H/N | 0.3662 | ambiguous | 0.3887 | ambiguous | -0.802 | Destabilizing | 0.999 | D | 0.446 | neutral | N | 0.520490313 | None | None | N |
| H/P | 0.894 | likely_pathogenic | 0.927 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.610899233 | None | None | N |
| H/Q | 0.5716 | likely_pathogenic | 0.5868 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.498024617 | None | None | N |
| H/R | 0.329 | likely_benign | 0.3477 | ambiguous | -1.212 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.48976738 | None | None | N |
| H/S | 0.7012 | likely_pathogenic | 0.7233 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| H/T | 0.7918 | likely_pathogenic | 0.8079 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| H/V | 0.7551 | likely_pathogenic | 0.7706 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| H/W | 0.7565 | likely_pathogenic | 0.7598 | pathogenic | 0.729 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| H/Y | 0.3277 | likely_benign | 0.3418 | ambiguous | 0.801 | Stabilizing | 0.999 | D | 0.46 | neutral | D | 0.611387237 | 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.