Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20479 | 61660;61661;61662 | chr2:178590290;178590289;178590288 | chr2:179455017;179455016;179455015 |
| N2AB | 18838 | 56737;56738;56739 | chr2:178590290;178590289;178590288 | chr2:179455017;179455016;179455015 |
| N2A | 17911 | 53956;53957;53958 | chr2:178590290;178590289;178590288 | chr2:179455017;179455016;179455015 |
| N2B | 11414 | 34465;34466;34467 | chr2:178590290;178590289;178590288 | chr2:179455017;179455016;179455015 |
| Novex-1 | 11539 | 34840;34841;34842 | chr2:178590290;178590289;178590288 | chr2:179455017;179455016;179455015 |
| Novex-2 | 11606 | 35041;35042;35043 | chr2:178590290;178590289;178590288 | chr2:179455017;179455016;179455015 |
| 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 | rs773754692  |
0.342 | 0.999 | N | 0.685 | 0.403 | 0.188950314367 | gnomAD-2.1.1 | 4.69E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.79E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs773754692 |
0.342 | 0.999 | N | 0.685 | 0.403 | 0.188950314367 | gnomAD-4.0.0 | 1.7074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.803E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8569 | likely_pathogenic | 0.8567 | pathogenic | -0.315 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.475514208 | None | None | N |
| D/C | 0.9782 | likely_pathogenic | 0.9803 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/E | 0.8212 | likely_pathogenic | 0.8413 | pathogenic | -0.356 | Destabilizing | 0.767 | D | 0.297 | neutral | N | 0.477035145 | None | None | N |
| D/F | 0.9886 | likely_pathogenic | 0.9864 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/G | 0.8786 | likely_pathogenic | 0.8816 | pathogenic | -0.531 | Destabilizing | 0.998 | D | 0.673 | neutral | N | 0.477035145 | None | None | N |
| D/H | 0.9546 | likely_pathogenic | 0.9517 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.477795614 | None | None | N |
| D/I | 0.9803 | likely_pathogenic | 0.9785 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/K | 0.9879 | likely_pathogenic | 0.9869 | pathogenic | 0.136 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/L | 0.9445 | likely_pathogenic | 0.9425 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/M | 0.9861 | likely_pathogenic | 0.9855 | pathogenic | 0.328 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| D/N | 0.7201 | likely_pathogenic | 0.752 | pathogenic | -0.141 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.47475374 | None | None | N |
| D/P | 0.9638 | likely_pathogenic | 0.9657 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Q | 0.9732 | likely_pathogenic | 0.9729 | pathogenic | -0.097 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | N |
| D/R | 0.9845 | likely_pathogenic | 0.9828 | pathogenic | 0.323 | Stabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/S | 0.7749 | likely_pathogenic | 0.7904 | pathogenic | -0.265 | Destabilizing | 0.997 | D | 0.649 | neutral | None | None | None | None | N |
| D/T | 0.9288 | likely_pathogenic | 0.9339 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| D/V | 0.9293 | likely_pathogenic | 0.9247 | pathogenic | 0.059 | Stabilizing | 0.999 | D | 0.692 | prob.neutral | N | 0.476274677 | None | None | N |
| D/W | 0.9967 | likely_pathogenic | 0.9958 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9402 | likely_pathogenic | 0.9305 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.477542124 | 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.