Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30674 | 92245;92246;92247 | chr2:178549702;178549701;178549700 | chr2:179414429;179414428;179414427 |
| N2AB | 29033 | 87322;87323;87324 | chr2:178549702;178549701;178549700 | chr2:179414429;179414428;179414427 |
| N2A | 28106 | 84541;84542;84543 | chr2:178549702;178549701;178549700 | chr2:179414429;179414428;179414427 |
| N2B | 21609 | 65050;65051;65052 | chr2:178549702;178549701;178549700 | chr2:179414429;179414428;179414427 |
| Novex-1 | 21734 | 65425;65426;65427 | chr2:178549702;178549701;178549700 | chr2:179414429;179414428;179414427 |
| Novex-2 | 21801 | 65626;65627;65628 | chr2:178549702;178549701;178549700 | chr2:179414429;179414428;179414427 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs758335817  |
-1.693 | 1.0 | N | 0.873 | 0.543 | 0.731854995193 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 0 |
| C/R | rs758335817 |
-1.693 | 1.0 | N | 0.873 | 0.543 | 0.731854995193 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs758335817 |
-1.693 | 1.0 | N | 0.873 | 0.543 | 0.731854995193 | gnomAD-4.0.0 | 3.84365E-06 | None | None | None | None | N | None | 0 | 1.69492E-05 | None | 0 | 0 | None | 0 | 0 | 4.78631E-06 | 0 | 0 |
| C/W | rs750208197 |
-1.34 | 1.0 | N | 0.83 | 0.433 | 0.600958532112 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/W | rs750208197 |
-1.34 | 1.0 | N | 0.83 | 0.433 | 0.600958532112 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| C/Y | rs1193081606 |
-1.605 | 1.0 | N | 0.85 | 0.493 | 0.641759411539 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1193081606 |
-1.605 | 1.0 | N | 0.85 | 0.493 | 0.641759411539 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5797 | likely_pathogenic | 0.5812 | pathogenic | -1.586 | Destabilizing | 0.998 | D | 0.567 | neutral | None | None | None | None | N |
| C/D | 0.9327 | likely_pathogenic | 0.9461 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/E | 0.9427 | likely_pathogenic | 0.9514 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| C/F | 0.5773 | likely_pathogenic | 0.6247 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.469531906 | None | None | N |
| C/G | 0.4142 | ambiguous | 0.4599 | ambiguous | -1.952 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.450597584 | None | None | N |
| C/H | 0.8485 | likely_pathogenic | 0.8642 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| C/I | 0.5627 | ambiguous | 0.5547 | ambiguous | -0.605 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/K | 0.9375 | likely_pathogenic | 0.9453 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| C/L | 0.5602 | ambiguous | 0.581 | pathogenic | -0.605 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| C/M | 0.7571 | likely_pathogenic | 0.755 | pathogenic | 0.303 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| C/N | 0.7696 | likely_pathogenic | 0.783 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| C/P | 0.9274 | likely_pathogenic | 0.9361 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| C/Q | 0.8748 | likely_pathogenic | 0.8872 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| C/R | 0.7653 | likely_pathogenic | 0.8076 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.461739864 | None | None | N |
| C/S | 0.5371 | ambiguous | 0.5571 | ambiguous | -1.903 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.476053389 | None | None | N |
| C/T | 0.6223 | likely_pathogenic | 0.6196 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/V | 0.4527 | ambiguous | 0.4326 | ambiguous | -0.908 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| C/W | 0.8507 | likely_pathogenic | 0.8828 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.498485487 | None | None | N |
| C/Y | 0.6922 | likely_pathogenic | 0.7415 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.508936599 | 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.