Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2087 | 6484;6485;6486 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
| N2AB | 2087 | 6484;6485;6486 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
| N2A | 2087 | 6484;6485;6486 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
| N2B | 2041 | 6346;6347;6348 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
| Novex-1 | 2041 | 6346;6347;6348 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
| Novex-2 | 2041 | 6346;6347;6348 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
| Novex-3 | 2087 | 6484;6485;6486 | chr2:178775605;178775604;178775603 | chr2:179640332;179640331;179640330 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1477007971  |
0.012 | 0.961 | N | 0.469 | 0.373 | 0.237489013734 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs1477007971 |
0.012 | 0.961 | N | 0.469 | 0.373 | 0.237489013734 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5912 | likely_pathogenic | 0.5425 | ambiguous | -0.735 | Destabilizing | 0.985 | D | 0.523 | neutral | None | None | None | None | N |
| Q/C | 0.9213 | likely_pathogenic | 0.9104 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| Q/D | 0.949 | likely_pathogenic | 0.9328 | pathogenic | -0.397 | Destabilizing | 0.993 | D | 0.441 | neutral | None | None | None | None | N |
| Q/E | 0.2432 | likely_benign | 0.2135 | benign | -0.27 | Destabilizing | 0.953 | D | 0.437 | neutral | N | 0.511317108 | None | None | N |
| Q/F | 0.9539 | likely_pathogenic | 0.9436 | pathogenic | -0.357 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| Q/G | 0.8722 | likely_pathogenic | 0.854 | pathogenic | -1.118 | Destabilizing | 0.993 | D | 0.535 | neutral | None | None | None | None | N |
| Q/H | 0.7145 | likely_pathogenic | 0.6601 | pathogenic | -0.868 | Destabilizing | 0.999 | D | 0.471 | neutral | N | 0.504783193 | None | None | N |
| Q/I | 0.6729 | likely_pathogenic | 0.6 | pathogenic | 0.254 | Stabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| Q/K | 0.2598 | likely_benign | 0.2317 | benign | -0.25 | Destabilizing | 0.219 | N | 0.171 | neutral | N | 0.500518501 | None | None | N |
| Q/L | 0.4012 | ambiguous | 0.3638 | ambiguous | 0.254 | Stabilizing | 0.99 | D | 0.535 | neutral | N | 0.470580403 | None | None | N |
| Q/M | 0.5589 | ambiguous | 0.5186 | ambiguous | 0.613 | Stabilizing | 0.999 | D | 0.471 | neutral | None | None | None | None | N |
| Q/N | 0.8218 | likely_pathogenic | 0.7788 | pathogenic | -0.862 | Destabilizing | 0.993 | D | 0.447 | neutral | None | None | None | None | N |
| Q/P | 0.9892 | likely_pathogenic | 0.9863 | pathogenic | -0.044 | Destabilizing | 0.999 | D | 0.535 | neutral | D | 0.646485433 | None | None | N |
| Q/R | 0.3465 | ambiguous | 0.3107 | benign | -0.267 | Destabilizing | 0.961 | D | 0.469 | neutral | N | 0.50350245 | None | None | N |
| Q/S | 0.7329 | likely_pathogenic | 0.694 | pathogenic | -1.007 | Destabilizing | 0.985 | D | 0.437 | neutral | None | None | None | None | N |
| Q/T | 0.5427 | ambiguous | 0.4856 | ambiguous | -0.669 | Destabilizing | 0.993 | D | 0.517 | neutral | None | None | None | None | N |
| Q/V | 0.4629 | ambiguous | 0.4073 | ambiguous | -0.044 | Destabilizing | 0.998 | D | 0.533 | neutral | None | None | None | None | N |
| Q/W | 0.9696 | likely_pathogenic | 0.9649 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| Q/Y | 0.9273 | likely_pathogenic | 0.9111 | pathogenic | 0.022 | Stabilizing | 0.999 | D | 0.57 | 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.