Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2082 | 6469;6470;6471 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
| N2AB | 2082 | 6469;6470;6471 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
| N2A | 2082 | 6469;6470;6471 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
| N2B | 2036 | 6331;6332;6333 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
| Novex-1 | 2036 | 6331;6332;6333 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
| Novex-2 | 2036 | 6331;6332;6333 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
| Novex-3 | 2082 | 6469;6470;6471 | chr2:178775620;178775619;178775618 | chr2:179640347;179640346;179640345 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | None | -0.05 | 1.0 | N | 0.551 | 0.426 | 0.498259528926 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| E/K | None | -0.05 | 1.0 | N | 0.551 | 0.426 | 0.498259528926 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/K | None | -0.05 | 1.0 | N | 0.551 | 0.426 | 0.498259528926 | gnomAD-4.0.0 | 1.79681E-05 | None | None | None | None | N | None | 1.33486E-05 | 3.33444E-05 | None | 0 | 0 | None | 0 | 1.6442E-04 | 1.77965E-05 | 3.29337E-05 | 1.60041E-05 |
| E/Q | rs750064248  |
None | 1.0 | N | 0.579 | 0.328 | 0.32471235697 | gnomAD-4.0.0 | 6.84091E-07 | None | None | None | None | N | None | 0 | 2.23684E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.855 | likely_pathogenic | 0.8675 | pathogenic | -0.668 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.503310234 | None | None | N |
| E/C | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| E/D | 0.6634 | likely_pathogenic | 0.6861 | pathogenic | -0.909 | Destabilizing | 0.999 | D | 0.418 | neutral | D | 0.551065975 | None | None | N |
| E/F | 0.9946 | likely_pathogenic | 0.9955 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| E/G | 0.8726 | likely_pathogenic | 0.8485 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | D | 0.561545739 | None | None | N |
| E/H | 0.9681 | likely_pathogenic | 0.9748 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| E/I | 0.9754 | likely_pathogenic | 0.9818 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| E/K | 0.9168 | likely_pathogenic | 0.9345 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.551 | neutral | N | 0.508448135 | None | None | N |
| E/L | 0.9595 | likely_pathogenic | 0.9681 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/M | 0.9754 | likely_pathogenic | 0.9808 | pathogenic | 0.443 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/N | 0.9514 | likely_pathogenic | 0.9579 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| E/P | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| E/Q | 0.6216 | likely_pathogenic | 0.6766 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.579 | neutral | N | 0.484925749 | None | None | N |
| E/R | 0.9351 | likely_pathogenic | 0.9452 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| E/S | 0.8367 | likely_pathogenic | 0.8522 | pathogenic | -1.233 | Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| E/T | 0.9196 | likely_pathogenic | 0.9331 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| E/V | 0.9272 | likely_pathogenic | 0.9421 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.507032058 | None | None | N |
| E/W | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | 0.254 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9891 | likely_pathogenic | 0.9912 | pathogenic | 0.234 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | 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.