Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3183 | 9772;9773;9774 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
| N2AB | 3183 | 9772;9773;9774 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
| N2A | 3183 | 9772;9773;9774 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
| N2B | 3137 | 9634;9635;9636 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
| Novex-1 | 3137 | 9634;9635;9636 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
| Novex-2 | 3137 | 9634;9635;9636 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
| Novex-3 | 3183 | 9772;9773;9774 | chr2:178766537;178766536;178766535 | chr2:179631264;179631263;179631262 |
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/D | rs772678867  |
-0.467 | 1.0 | N | 0.677 | 0.523 | 0.149567049428 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| G/D | rs772678867 |
-0.467 | 1.0 | N | 0.677 | 0.523 | 0.149567049428 | gnomAD-4.0.0 | 4.10453E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 4.49654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7175 | likely_pathogenic | 0.6894 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.477825958 | None | None | I |
| G/C | 0.8684 | likely_pathogenic | 0.8442 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.47931607 | None | None | I |
| G/D | 0.6075 | likely_pathogenic | 0.5625 | ambiguous | -0.525 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.387574537 | None | None | I |
| G/E | 0.8012 | likely_pathogenic | 0.7578 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/F | 0.9838 | likely_pathogenic | 0.9835 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/H | 0.9057 | likely_pathogenic | 0.8865 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/I | 0.9694 | likely_pathogenic | 0.967 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/K | 0.9192 | likely_pathogenic | 0.902 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| G/L | 0.9716 | likely_pathogenic | 0.9704 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| G/M | 0.9677 | likely_pathogenic | 0.9638 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/N | 0.6321 | likely_pathogenic | 0.5727 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/Q | 0.8467 | likely_pathogenic | 0.8162 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/R | 0.8191 | likely_pathogenic | 0.8063 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.477825958 | None | None | I |
| G/S | 0.3863 | ambiguous | 0.3445 | ambiguous | -0.807 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.475997603 | None | None | I |
| G/T | 0.8499 | likely_pathogenic | 0.8246 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| G/V | 0.9459 | likely_pathogenic | 0.9429 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.47931607 | None | None | I |
| G/W | 0.9565 | likely_pathogenic | 0.9592 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9594 | likely_pathogenic | 0.9565 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | 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.