Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17398 | 52417;52418;52419 | chr2:178608819;178608818;178608817 | chr2:179473546;179473545;179473544 |
| N2AB | 15757 | 47494;47495;47496 | chr2:178608819;178608818;178608817 | chr2:179473546;179473545;179473544 |
| N2A | 14830 | 44713;44714;44715 | chr2:178608819;178608818;178608817 | chr2:179473546;179473545;179473544 |
| N2B | 8333 | 25222;25223;25224 | chr2:178608819;178608818;178608817 | chr2:179473546;179473545;179473544 |
| Novex-1 | 8458 | 25597;25598;25599 | chr2:178608819;178608818;178608817 | chr2:179473546;179473545;179473544 |
| Novex-2 | 8525 | 25798;25799;25800 | chr2:178608819;178608818;178608817 | chr2:179473546;179473545;179473544 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.611 | 0.546 | 0.333906830038 | gnomAD-4.0.0 | 1.59417E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.77464E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs2055560855  |
None | 1.0 | N | 0.693 | 0.588 | 0.340510301474 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs2055560855 |
None | 1.0 | N | 0.693 | 0.588 | 0.340510301474 | gnomAD-4.0.0 | 2.56651E-06 | None | None | None | None | I | None | 1.69394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39622E-06 | 0 | 0 |
| G/V | rs1471268523 |
0.008 | 1.0 | D | 0.791 | 0.652 | 0.631438196984 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1471268523 |
0.008 | 1.0 | D | 0.791 | 0.652 | 0.631438196984 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1471268523 |
0.008 | 1.0 | D | 0.791 | 0.652 | 0.631438196984 | gnomAD-4.0.0 | 2.56661E-06 | None | None | None | None | I | None | 3.3873E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.828 | likely_pathogenic | 0.8001 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.489035875 | None | None | I |
| G/C | 0.8482 | likely_pathogenic | 0.8268 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.522752851 | None | None | I |
| G/D | 0.9693 | likely_pathogenic | 0.9605 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.526511832 | None | None | I |
| G/E | 0.977 | likely_pathogenic | 0.9707 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/F | 0.9778 | likely_pathogenic | 0.9766 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/H | 0.9788 | likely_pathogenic | 0.973 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/I | 0.9787 | likely_pathogenic | 0.9762 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9775 | likely_pathogenic | 0.9716 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.97 | likely_pathogenic | 0.9653 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/M | 0.9781 | likely_pathogenic | 0.9749 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.949 | likely_pathogenic | 0.9361 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9647 | likely_pathogenic | 0.9558 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/R | 0.9516 | likely_pathogenic | 0.9403 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.503888127 | None | None | I |
| G/S | 0.7692 | likely_pathogenic | 0.7282 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.497478891 | None | None | I |
| G/T | 0.9559 | likely_pathogenic | 0.9468 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/V | 0.9675 | likely_pathogenic | 0.9606 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.533095198 | None | None | I |
| G/W | 0.9783 | likely_pathogenic | 0.9785 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9739 | likely_pathogenic | 0.9715 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
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.