Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31677 | 95254;95255;95256 | chr2:178546302;178546301;178546300 | chr2:179411029;179411028;179411027 |
| N2AB | 30036 | 90331;90332;90333 | chr2:178546302;178546301;178546300 | chr2:179411029;179411028;179411027 |
| N2A | 29109 | 87550;87551;87552 | chr2:178546302;178546301;178546300 | chr2:179411029;179411028;179411027 |
| N2B | 22612 | 68059;68060;68061 | chr2:178546302;178546301;178546300 | chr2:179411029;179411028;179411027 |
| Novex-1 | 22737 | 68434;68435;68436 | chr2:178546302;178546301;178546300 | chr2:179411029;179411028;179411027 |
| Novex-2 | 22804 | 68635;68636;68637 | chr2:178546302;178546301;178546300 | chr2:179411029;179411028;179411027 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1559147244  |
None | 0.027 | N | 0.329 | 0.127 | 0.33440975612 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| F/S | None | None | 0.002 | N | 0.197 | 0.129 | 0.346085882481 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85835E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.5013 | ambiguous | 0.4889 | ambiguous | -0.938 | Destabilizing | 0.035 | N | 0.407 | neutral | None | None | None | None | N |
| F/C | 0.2809 | likely_benign | 0.286 | benign | -0.257 | Destabilizing | 0.915 | D | 0.319 | neutral | N | 0.427232361 | None | None | N |
| F/D | 0.5421 | ambiguous | 0.5337 | ambiguous | 0.863 | Stabilizing | 0.081 | N | 0.406 | neutral | None | None | None | None | N |
| F/E | 0.7486 | likely_pathogenic | 0.7303 | pathogenic | 0.84 | Stabilizing | 0.149 | N | 0.406 | neutral | None | None | None | None | N |
| F/G | 0.601 | likely_pathogenic | 0.5807 | pathogenic | -1.141 | Destabilizing | 0.067 | N | 0.419 | neutral | None | None | None | None | N |
| F/H | 0.4505 | ambiguous | 0.4434 | ambiguous | 0.226 | Stabilizing | 0.38 | N | 0.331 | neutral | None | None | None | None | N |
| F/I | 0.4203 | ambiguous | 0.4451 | ambiguous | -0.421 | Destabilizing | 0.117 | N | 0.339 | neutral | N | 0.438276074 | None | None | N |
| F/K | 0.8286 | likely_pathogenic | 0.8044 | pathogenic | 0.04 | Stabilizing | 0.149 | N | 0.404 | neutral | None | None | None | None | N |
| F/L | 0.8851 | likely_pathogenic | 0.8959 | pathogenic | -0.421 | Destabilizing | 0.027 | N | 0.329 | neutral | N | 0.438102716 | None | None | N |
| F/M | 0.5927 | likely_pathogenic | 0.5926 | pathogenic | -0.263 | Destabilizing | 0.555 | D | 0.345 | neutral | None | None | None | None | N |
| F/N | 0.3448 | ambiguous | 0.3459 | ambiguous | 0.166 | Stabilizing | 0.002 | N | 0.279 | neutral | None | None | None | None | N |
| F/P | 0.9857 | likely_pathogenic | 0.985 | pathogenic | -0.573 | Destabilizing | 0.555 | D | 0.373 | neutral | None | None | None | None | N |
| F/Q | 0.7024 | likely_pathogenic | 0.6757 | pathogenic | 0.079 | Stabilizing | 0.555 | D | 0.367 | neutral | None | None | None | None | N |
| F/R | 0.7519 | likely_pathogenic | 0.7217 | pathogenic | 0.525 | Stabilizing | 0.38 | N | 0.361 | neutral | None | None | None | None | N |
| F/S | 0.3187 | likely_benign | 0.3202 | benign | -0.576 | Destabilizing | 0.002 | N | 0.197 | neutral | N | 0.349846226 | None | None | N |
| F/T | 0.5463 | ambiguous | 0.5499 | ambiguous | -0.503 | Destabilizing | 0.081 | N | 0.403 | neutral | None | None | None | None | N |
| F/V | 0.3707 | ambiguous | 0.3925 | ambiguous | -0.573 | Destabilizing | 0.117 | N | 0.377 | neutral | N | 0.400661835 | None | None | N |
| F/W | 0.4549 | ambiguous | 0.4443 | ambiguous | -0.254 | Destabilizing | 0.824 | D | 0.353 | neutral | None | None | None | None | N |
| F/Y | 0.0639 | likely_benign | 0.0669 | benign | -0.211 | Destabilizing | None | N | 0.264 | neutral | N | 0.400488477 | 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.