Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17653 | 53182;53183;53184 | chr2:178607830;178607829;178607828 | chr2:179472557;179472556;179472555 |
| N2AB | 16012 | 48259;48260;48261 | chr2:178607830;178607829;178607828 | chr2:179472557;179472556;179472555 |
| N2A | 15085 | 45478;45479;45480 | chr2:178607830;178607829;178607828 | chr2:179472557;179472556;179472555 |
| N2B | 8588 | 25987;25988;25989 | chr2:178607830;178607829;178607828 | chr2:179472557;179472556;179472555 |
| Novex-1 | 8713 | 26362;26363;26364 | chr2:178607830;178607829;178607828 | chr2:179472557;179472556;179472555 |
| Novex-2 | 8780 | 26563;26564;26565 | chr2:178607830;178607829;178607828 | chr2:179472557;179472556;179472555 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs2055283494  |
None | 1.0 | N | 0.911 | 0.567 | 0.595244198341 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs2055283494 |
None | 1.0 | N | 0.911 | 0.567 | 0.595244198341 | gnomAD-4.0.0 | 2.0303E-06 | None | None | None | None | N | None | 1.74807E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40252E-05 |
| G/R | rs766366983 |
-0.877 | 1.0 | N | 0.919 | 0.619 | 0.692127427503 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs766366983 |
-0.877 | 1.0 | N | 0.919 | 0.619 | 0.692127427503 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 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 | 0.7237 | likely_pathogenic | 0.7355 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.524644819 | None | None | N |
| G/C | 0.9163 | likely_pathogenic | 0.927 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/D | 0.9821 | likely_pathogenic | 0.9836 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/E | 0.9877 | likely_pathogenic | 0.9866 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.513542003 | None | None | N |
| G/F | 0.9904 | likely_pathogenic | 0.9901 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/H | 0.993 | likely_pathogenic | 0.9935 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/I | 0.976 | likely_pathogenic | 0.9783 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/K | 0.9958 | likely_pathogenic | 0.9963 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/L | 0.9803 | likely_pathogenic | 0.9798 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/M | 0.9852 | likely_pathogenic | 0.9856 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/N | 0.9755 | likely_pathogenic | 0.9792 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/P | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/Q | 0.9908 | likely_pathogenic | 0.9913 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/R | 0.9928 | likely_pathogenic | 0.9935 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.919 | deleterious | N | 0.513795493 | None | None | N |
| G/S | 0.4726 | ambiguous | 0.5137 | ambiguous | -1.337 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/T | 0.9109 | likely_pathogenic | 0.9258 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/V | 0.9627 | likely_pathogenic | 0.9649 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.525658777 | None | None | N |
| G/W | 0.9885 | likely_pathogenic | 0.9893 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Y | 0.9892 | likely_pathogenic | 0.989 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.875 | deleterious | 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.