Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2557 | 7894;7895;7896 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
| N2AB | 2557 | 7894;7895;7896 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
| N2A | 2557 | 7894;7895;7896 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
| N2B | 2511 | 7756;7757;7758 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
| Novex-1 | 2511 | 7756;7757;7758 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
| Novex-2 | 2511 | 7756;7757;7758 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
| Novex-3 | 2557 | 7894;7895;7896 | chr2:178773295;178773294;178773293 | chr2:179638022;179638021;179638020 |
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/F | None | None | 1.0 | D | 0.68 | 0.664 | 0.803046222293 | gnomAD-4.0.0 | 6.84132E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99316E-07 | 0 | 0 |
| S/Y | None | None | 1.0 | D | 0.682 | 0.603 | 0.77887435882 | gnomAD-4.0.0 | 6.84132E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 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 | 0.5855 | likely_pathogenic | 0.5371 | ambiguous | -0.396 | Destabilizing | 0.997 | D | 0.395 | neutral | D | 0.602578694 | None | None | N |
| S/C | 0.7811 | likely_pathogenic | 0.7301 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.666 | neutral | D | 0.699377692 | None | None | N |
| S/D | 0.843 | likely_pathogenic | 0.8061 | pathogenic | 0.046 | Stabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| S/E | 0.9657 | likely_pathogenic | 0.956 | pathogenic | 0.064 | Stabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| S/F | 0.9713 | likely_pathogenic | 0.9561 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.697646595 | None | None | N |
| S/G | 0.5784 | likely_pathogenic | 0.5135 | ambiguous | -0.665 | Destabilizing | 0.999 | D | 0.451 | neutral | None | None | None | None | N |
| S/H | 0.951 | likely_pathogenic | 0.9376 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/I | 0.9291 | likely_pathogenic | 0.9015 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| S/K | 0.9969 | likely_pathogenic | 0.9955 | pathogenic | -0.57 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | N |
| S/L | 0.7993 | likely_pathogenic | 0.7419 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| S/M | 0.8929 | likely_pathogenic | 0.8583 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/N | 0.5613 | ambiguous | 0.5091 | ambiguous | -0.551 | Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| S/P | 0.9819 | likely_pathogenic | 0.9739 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.697646595 | None | None | N |
| S/Q | 0.9733 | likely_pathogenic | 0.9664 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/R | 0.9953 | likely_pathogenic | 0.9931 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| S/T | 0.25 | likely_benign | 0.2195 | benign | -0.526 | Destabilizing | 0.999 | D | 0.43 | neutral | N | 0.501949693 | None | None | N |
| S/V | 0.9306 | likely_pathogenic | 0.9084 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| S/W | 0.9736 | likely_pathogenic | 0.9628 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| S/Y | 0.9276 | likely_pathogenic | 0.8959 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | D | 0.606430839 | 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.