Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
| N2AB | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
| N2A | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
| N2B | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
| Novex-1 | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
| Novex-2 | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
| Novex-3 | 76 | 451;452;453 | chr2:178802207;178802206;178802205 | chr2:179666934;179666933;179666932 |
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/A | rs138750421  |
-0.395 | 1.0 | D | 0.735 | 0.678 | None | gnomAD-2.1.1 | 9.9E-05 | None | None | None | -0.629(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.98E-05 | 1.70374E-04 | 6.92137E-04 |
| G/A | rs138750421 |
-0.395 | 1.0 | D | 0.735 | 0.678 | None | gnomAD-3.1.2 | 1.11723E-04 | None | None | None | -0.629(TCAP) | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 3.7679E-04 | 0 | 1.76377E-04 | 0 | 0 |
| G/A | rs138750421 |
-0.395 | 1.0 | D | 0.735 | 0.678 | None | gnomAD-4.0.0 | 8.24034E-05 | None | None | None | -0.629(TCAP) | N | None | 0 | 0 | None | 6.75493E-05 | 2.22747E-05 | None | 2.81092E-04 | 0 | 9.23721E-05 | 0 | 4.80138E-05 |
| G/R | rs771137064 |
-0.619 | 1.0 | D | 0.814 | 0.823 | 0.873694922674 | gnomAD-4.0.0 | 3.18088E-06 | None | None | None | -1.835(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.88168E-05 | 0 | 2.85647E-06 | 0 | 0 |
| G/V | rs138750421 |
None | 1.0 | D | 0.808 | 0.819 | 0.927192934444 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.019(TCAP) | N | None | 0 | 0 | None | 9.92E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs138750421 |
None | 1.0 | D | 0.808 | 0.819 | 0.927192934444 | gnomAD-4.0.0 | 6.84065E-07 | None | None | None | -1.019(TCAP) | N | None | 0 | 0 | None | 3.82614E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.494 | ambiguous | 0.4864 | ambiguous | -0.746 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.594890538 | None | -0.629(TCAP) | N |
| G/C | 0.9332 | likely_pathogenic | 0.9368 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | -1.83(TCAP) | N |
| G/D | 0.9125 | likely_pathogenic | 0.916 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -1.517(TCAP) | N |
| G/E | 0.9319 | likely_pathogenic | 0.9364 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.825586514 | None | -1.719(TCAP) | N |
| G/F | 0.987 | likely_pathogenic | 0.988 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | -1.405(TCAP) | N |
| G/H | 0.9821 | likely_pathogenic | 0.9827 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | -0.563(TCAP) | N |
| G/I | 0.9728 | likely_pathogenic | 0.9749 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | -1.217(TCAP) | N |
| G/K | 0.9763 | likely_pathogenic | 0.9792 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -1.928(TCAP) | N |
| G/L | 0.9687 | likely_pathogenic | 0.9717 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | -1.217(TCAP) | N |
| G/M | 0.9845 | likely_pathogenic | 0.9851 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | -1.47(TCAP) | N |
| G/N | 0.9497 | likely_pathogenic | 0.9523 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | -1.404(TCAP) | N |
| G/P | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | -1.019(TCAP) | N |
| G/Q | 0.9407 | likely_pathogenic | 0.9431 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | -1.609(TCAP) | N |
| G/R | 0.9325 | likely_pathogenic | 0.9377 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.825534471 | None | -1.835(TCAP) | N |
| G/S | 0.4306 | ambiguous | 0.4272 | ambiguous | -1.326 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | -1.068(TCAP) | N |
| G/T | 0.8743 | likely_pathogenic | 0.8755 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | -1.319(TCAP) | N |
| G/V | 0.9318 | likely_pathogenic | 0.9369 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.805713176 | None | -1.019(TCAP) | N |
| G/W | 0.9836 | likely_pathogenic | 0.9828 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | -1.791(TCAP) | N |
| G/Y | 0.987 | likely_pathogenic | 0.9877 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | -1.426(TCAP) | 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.