Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5423 | 16492;16493;16494 | chr2:178732909;178732908;178732907 | chr2:179597636;179597635;179597634 |
| N2AB | 5106 | 15541;15542;15543 | chr2:178732909;178732908;178732907 | chr2:179597636;179597635;179597634 |
| N2A | 4179 | 12760;12761;12762 | chr2:178732909;178732908;178732907 | chr2:179597636;179597635;179597634 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs915060068  |
None | 0.733 | D | 0.349 | 0.461 | 0.482792760554 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs915060068 |
None | 0.733 | D | 0.349 | 0.461 | 0.482792760554 | gnomAD-4.0.0 | 3.42177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79777E-05 | 0 |
| D/Y | rs915060068 |
None | 1.0 | D | 0.863 | 0.537 | 0.85727982643 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs915060068 |
None | 1.0 | D | 0.863 | 0.537 | 0.85727982643 | gnomAD-4.0.0 | 1.23961E-06 | None | None | None | None | N | None | 1.33494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47662E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7495 | likely_pathogenic | 0.7713 | pathogenic | 0.139 | Stabilizing | 0.989 | D | 0.791 | deleterious | D | 0.639693526 | None | None | N |
| D/C | 0.9205 | likely_pathogenic | 0.9346 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/E | 0.6993 | likely_pathogenic | 0.7204 | pathogenic | -0.825 | Destabilizing | 0.543 | D | 0.317 | neutral | D | 0.612944589 | None | None | N |
| D/F | 0.9336 | likely_pathogenic | 0.943 | pathogenic | 0.792 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/G | 0.8291 | likely_pathogenic | 0.8547 | pathogenic | -0.313 | Destabilizing | 0.989 | D | 0.699 | prob.neutral | D | 0.656146856 | None | None | N |
| D/H | 0.6719 | likely_pathogenic | 0.7301 | pathogenic | 0.364 | Stabilizing | 1.0 | D | 0.778 | deleterious | D | 0.590413899 | None | None | N |
| D/I | 0.9113 | likely_pathogenic | 0.9215 | pathogenic | 1.353 | Stabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| D/K | 0.943 | likely_pathogenic | 0.9559 | pathogenic | -0.027 | Destabilizing | 0.992 | D | 0.755 | deleterious | None | None | None | None | N |
| D/L | 0.9024 | likely_pathogenic | 0.9151 | pathogenic | 1.353 | Stabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| D/M | 0.9518 | likely_pathogenic | 0.9597 | pathogenic | 1.754 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/N | 0.4921 | ambiguous | 0.5248 | ambiguous | -0.803 | Destabilizing | 0.733 | D | 0.349 | neutral | D | 0.590021009 | None | None | N |
| D/P | 0.9929 | likely_pathogenic | 0.9942 | pathogenic | 0.978 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Q | 0.8975 | likely_pathogenic | 0.9076 | pathogenic | -0.489 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| D/R | 0.9495 | likely_pathogenic | 0.9592 | pathogenic | 0.035 | Stabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| D/S | 0.6006 | likely_pathogenic | 0.6325 | pathogenic | -1.046 | Destabilizing | 0.992 | D | 0.604 | neutral | None | None | None | None | N |
| D/T | 0.8484 | likely_pathogenic | 0.8602 | pathogenic | -0.637 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| D/V | 0.7984 | likely_pathogenic | 0.8178 | pathogenic | 0.978 | Stabilizing | 0.998 | D | 0.872 | deleterious | D | 0.640298939 | None | None | N |
| D/W | 0.9867 | likely_pathogenic | 0.9905 | pathogenic | 0.874 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/Y | 0.6743 | likely_pathogenic | 0.7196 | pathogenic | 1.048 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.640097135 | 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.