Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2907 | 8944;8945;8946 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
| N2AB | 2907 | 8944;8945;8946 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
| N2A | 2907 | 8944;8945;8946 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
| N2B | 2861 | 8806;8807;8808 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
| Novex-1 | 2861 | 8806;8807;8808 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
| Novex-2 | 2861 | 8806;8807;8808 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
| Novex-3 | 2907 | 8944;8945;8946 | chr2:178769862;178769861;178769860 | chr2:179634589;179634588;179634587 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | None | None | 1.0 | N | 0.688 | 0.605 | 0.411932830014 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| H/N | None | None | 0.999 | N | 0.631 | 0.476 | 0.407901774203 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | None | None | 1.0 | D | 0.701 | 0.402 | 0.340992353424 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.926 | likely_pathogenic | 0.8785 | pathogenic | -0.007 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| H/C | 0.7362 | likely_pathogenic | 0.6547 | pathogenic | 0.418 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| H/D | 0.9301 | likely_pathogenic | 0.8591 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.499715111 | None | None | N |
| H/E | 0.9573 | likely_pathogenic | 0.922 | pathogenic | -0.271 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| H/F | 0.8373 | likely_pathogenic | 0.7824 | pathogenic | 1.044 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| H/G | 0.9524 | likely_pathogenic | 0.9136 | pathogenic | -0.327 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| H/I | 0.9506 | likely_pathogenic | 0.9199 | pathogenic | 0.843 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| H/K | 0.9336 | likely_pathogenic | 0.9026 | pathogenic | 0.027 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| H/L | 0.6668 | likely_pathogenic | 0.566 | pathogenic | 0.843 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.587108225 | None | None | N |
| H/M | 0.9555 | likely_pathogenic | 0.9385 | pathogenic | 0.483 | Stabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| H/N | 0.6666 | likely_pathogenic | 0.5315 | ambiguous | -0.209 | Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.505395584 | None | None | N |
| H/P | 0.8958 | likely_pathogenic | 0.8045 | pathogenic | 0.583 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.504903736 | None | None | N |
| H/Q | 0.9049 | likely_pathogenic | 0.8482 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.5865521 | None | None | N |
| H/R | 0.7804 | likely_pathogenic | 0.6854 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.502160293 | None | None | N |
| H/S | 0.8609 | likely_pathogenic | 0.7899 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| H/T | 0.9428 | likely_pathogenic | 0.9061 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| H/V | 0.9186 | likely_pathogenic | 0.8751 | pathogenic | 0.583 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| H/W | 0.8966 | likely_pathogenic | 0.8628 | pathogenic | 1.181 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| H/Y | 0.5045 | ambiguous | 0.4066 | ambiguous | 1.301 | Stabilizing | 0.999 | D | 0.641 | neutral | D | 0.587251923 | 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.