Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2729 | 8410;8411;8412 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
| N2AB | 2729 | 8410;8411;8412 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
| N2A | 2729 | 8410;8411;8412 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
| N2B | 2683 | 8272;8273;8274 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
| Novex-1 | 2683 | 8272;8273;8274 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
| Novex-2 | 2683 | 8272;8273;8274 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
| Novex-3 | 2729 | 8410;8411;8412 | chr2:178770607;178770606;178770605 | chr2:179635334;179635333;179635332 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.999 | D | 0.467 | 0.357 | 0.302793454619 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/K | rs763702243  |
-0.53 | 1.0 | D | 0.52 | 0.439 | 0.447803500395 | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | N | None | 0 | 2.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.55E-05 | 0 |
| E/K | rs763702243 |
-0.53 | 1.0 | D | 0.52 | 0.439 | 0.447803500395 | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 0 | 6.54793E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/K | rs763702243 |
-0.53 | 1.0 | D | 0.52 | 0.439 | 0.447803500395 | gnomAD-4.0.0 | 2.17715E-05 | None | None | None | None | N | None | 0 | 1.86428E-04 | None | 0 | 0 | None | 0 | 0 | 1.19587E-05 | 0 | 2.84204E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2749 | likely_benign | 0.3093 | benign | -1.103 | Destabilizing | 0.999 | D | 0.648 | neutral | D | 0.658041077 | None | None | N |
| E/C | 0.9411 | likely_pathogenic | 0.9607 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| E/D | 0.5313 | ambiguous | 0.5931 | pathogenic | -1.45 | Destabilizing | 0.999 | D | 0.467 | neutral | D | 0.618355604 | None | None | N |
| E/F | 0.9135 | likely_pathogenic | 0.9379 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/G | 0.5032 | ambiguous | 0.5796 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.6985146 | None | None | N |
| E/H | 0.7965 | likely_pathogenic | 0.8506 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| E/I | 0.5855 | likely_pathogenic | 0.6662 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| E/K | 0.4712 | ambiguous | 0.5427 | ambiguous | -0.88 | Destabilizing | 1.0 | D | 0.52 | neutral | D | 0.630545705 | None | None | N |
| E/L | 0.6738 | likely_pathogenic | 0.7473 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/M | 0.6313 | likely_pathogenic | 0.7025 | pathogenic | 0.456 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/N | 0.664 | likely_pathogenic | 0.7371 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/P | 0.9844 | likely_pathogenic | 0.9888 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| E/Q | 0.2362 | likely_benign | 0.2634 | benign | -1.119 | Destabilizing | 1.0 | D | 0.601 | neutral | D | 0.615642753 | None | None | N |
| E/R | 0.6495 | likely_pathogenic | 0.6998 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| E/S | 0.4118 | ambiguous | 0.471 | ambiguous | -1.686 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| E/T | 0.4486 | ambiguous | 0.512 | ambiguous | -1.365 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| E/V | 0.3902 | ambiguous | 0.4574 | ambiguous | -0.405 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.62062925 | None | None | N |
| E/W | 0.9811 | likely_pathogenic | 0.9867 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/Y | 0.894 | likely_pathogenic | 0.9258 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.803 | 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.