Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15142 | 45649;45650;45651 | chr2:178621294;178621293;178621292 | chr2:179486021;179486020;179486019 |
| N2AB | 13501 | 40726;40727;40728 | chr2:178621294;178621293;178621292 | chr2:179486021;179486020;179486019 |
| N2A | 12574 | 37945;37946;37947 | chr2:178621294;178621293;178621292 | chr2:179486021;179486020;179486019 |
| N2B | 6077 | 18454;18455;18456 | chr2:178621294;178621293;178621292 | chr2:179486021;179486020;179486019 |
| Novex-1 | 6202 | 18829;18830;18831 | chr2:178621294;178621293;178621292 | chr2:179486021;179486020;179486019 |
| Novex-2 | 6269 | 19030;19031;19032 | chr2:178621294;178621293;178621292 | chr2:179486021;179486020;179486019 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.78 | N | 0.651 | 0.296 | 0.507987536778 | gnomAD-4.0.0 | 1.36978E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79994E-06 | 0 | 0 |
| S/F | None | None | 0.484 | D | 0.705 | 0.375 | 0.658528444748 | gnomAD-4.0.0 | 6.84888E-07 | None | None | None | None | N | None | 2.99545E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1047 | likely_benign | 0.1057 | benign | -0.872 | Destabilizing | 0.012 | N | 0.416 | neutral | N | 0.505690121 | None | None | N |
| S/C | 0.1797 | likely_benign | 0.1493 | benign | -0.719 | Destabilizing | 0.78 | D | 0.651 | neutral | N | 0.508716885 | None | None | N |
| S/D | 0.5551 | ambiguous | 0.5542 | ambiguous | -0.712 | Destabilizing | 0.081 | N | 0.633 | neutral | None | None | None | None | N |
| S/E | 0.5691 | likely_pathogenic | 0.5864 | pathogenic | -0.645 | Destabilizing | 0.002 | N | 0.251 | neutral | None | None | None | None | N |
| S/F | 0.2706 | likely_benign | 0.2559 | benign | -0.892 | Destabilizing | 0.484 | N | 0.705 | prob.neutral | D | 0.58370805 | None | None | N |
| S/G | 0.166 | likely_benign | 0.1661 | benign | -1.17 | Destabilizing | 0.067 | N | 0.615 | neutral | None | None | None | None | N |
| S/H | 0.4126 | ambiguous | 0.3782 | ambiguous | -1.546 | Destabilizing | 0.791 | D | 0.663 | neutral | None | None | None | None | N |
| S/I | 0.2107 | likely_benign | 0.2099 | benign | -0.166 | Destabilizing | 0.002 | N | 0.543 | neutral | None | None | None | None | N |
| S/K | 0.7777 | likely_pathogenic | 0.749 | pathogenic | -0.607 | Destabilizing | 0.149 | N | 0.636 | neutral | None | None | None | None | N |
| S/L | 0.1261 | likely_benign | 0.1168 | benign | -0.166 | Destabilizing | 0.035 | N | 0.663 | neutral | None | None | None | None | N |
| S/M | 0.1959 | likely_benign | 0.188 | benign | -0.021 | Destabilizing | 0.555 | D | 0.678 | prob.neutral | None | None | None | None | N |
| S/N | 0.1625 | likely_benign | 0.1601 | benign | -0.816 | Destabilizing | 0.149 | N | 0.611 | neutral | None | None | None | None | N |
| S/P | 0.8119 | likely_pathogenic | 0.7446 | pathogenic | -0.367 | Destabilizing | 0.484 | N | 0.719 | prob.delet. | D | 0.557162592 | None | None | N |
| S/Q | 0.5615 | ambiguous | 0.5578 | ambiguous | -0.885 | Destabilizing | 0.38 | N | 0.7 | prob.neutral | None | None | None | None | N |
| S/R | 0.6881 | likely_pathogenic | 0.6625 | pathogenic | -0.625 | Destabilizing | 0.38 | N | 0.723 | prob.delet. | None | None | None | None | N |
| S/T | 0.0666 | likely_benign | 0.0636 | benign | -0.747 | Destabilizing | None | N | 0.197 | neutral | N | 0.494764114 | None | None | N |
| S/V | 0.2047 | likely_benign | 0.1963 | benign | -0.367 | Destabilizing | 0.035 | N | 0.663 | neutral | None | None | None | None | N |
| S/W | 0.4933 | ambiguous | 0.4512 | ambiguous | -0.909 | Destabilizing | 0.935 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2468 | likely_benign | 0.2321 | benign | -0.596 | Destabilizing | 0.484 | N | 0.701 | prob.neutral | N | 0.502298605 | 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.