Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24569 | 73930;73931;73932 | chr2:178572427;178572426;178572425 | chr2:179437154;179437153;179437152 |
| N2AB | 22928 | 69007;69008;69009 | chr2:178572427;178572426;178572425 | chr2:179437154;179437153;179437152 |
| N2A | 22001 | 66226;66227;66228 | chr2:178572427;178572426;178572425 | chr2:179437154;179437153;179437152 |
| N2B | 15504 | 46735;46736;46737 | chr2:178572427;178572426;178572425 | chr2:179437154;179437153;179437152 |
| Novex-1 | 15629 | 47110;47111;47112 | chr2:178572427;178572426;178572425 | chr2:179437154;179437153;179437152 |
| Novex-2 | 15696 | 47311;47312;47313 | chr2:178572427;178572426;178572425 | chr2:179437154;179437153;179437152 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 0.999 | N | 0.819 | 0.57 | 0.857858280741 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/G | rs540403126  |
-2.153 | 0.999 | N | 0.779 | 0.55 | 0.889413966974 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs540403126 |
-2.153 | 0.999 | N | 0.779 | 0.55 | 0.889413966974 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/G | rs540403126 |
-2.153 | 0.999 | N | 0.779 | 0.55 | 0.889413966974 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9478E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs755676676 |
-0.369 | 0.489 | N | 0.435 | 0.215 | 0.44711355012 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/I | rs755676676 |
-0.369 | 0.489 | N | 0.435 | 0.215 | 0.44711355012 | gnomAD-4.0.0 | 6.1613E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.04374E-04 | 0 |
| V/L | rs755676676 |
-0.372 | 0.014 | N | 0.307 | 0.235 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| V/L | rs755676676 |
-0.372 | 0.014 | N | 0.307 | 0.235 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/L | rs755676676 |
-0.372 | 0.014 | N | 0.307 | 0.235 | None | gnomAD-4.0.0 | 1.24008E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6961E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2783 | likely_benign | 0.2676 | benign | -1.431 | Destabilizing | 0.968 | D | 0.447 | neutral | N | 0.472089573 | None | None | N |
| V/C | 0.8797 | likely_pathogenic | 0.85 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| V/D | 0.9717 | likely_pathogenic | 0.9568 | pathogenic | -1.002 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.521313457 | None | None | N |
| V/E | 0.919 | likely_pathogenic | 0.8846 | pathogenic | -0.95 | Destabilizing | 0.991 | D | 0.771 | deleterious | None | None | None | None | N |
| V/F | 0.5632 | ambiguous | 0.4472 | ambiguous | -1.026 | Destabilizing | 0.995 | D | 0.783 | deleterious | N | 0.505628738 | None | None | N |
| V/G | 0.7489 | likely_pathogenic | 0.6784 | pathogenic | -1.798 | Destabilizing | 0.999 | D | 0.779 | deleterious | N | 0.519111411 | None | None | N |
| V/H | 0.9695 | likely_pathogenic | 0.9484 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/I | 0.0868 | likely_benign | 0.0828 | benign | -0.509 | Destabilizing | 0.489 | N | 0.435 | neutral | N | 0.482498054 | None | None | N |
| V/K | 0.9565 | likely_pathogenic | 0.9345 | pathogenic | -1.09 | Destabilizing | 0.996 | D | 0.772 | deleterious | None | None | None | None | N |
| V/L | 0.4353 | ambiguous | 0.3995 | ambiguous | -0.509 | Destabilizing | 0.014 | N | 0.307 | neutral | N | 0.47838345 | None | None | N |
| V/M | 0.3313 | likely_benign | 0.2766 | benign | -0.48 | Destabilizing | 0.995 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/N | 0.8946 | likely_pathogenic | 0.8537 | pathogenic | -1.037 | Destabilizing | 0.991 | D | 0.817 | deleterious | None | None | None | None | N |
| V/P | 0.9811 | likely_pathogenic | 0.9698 | pathogenic | -0.781 | Destabilizing | 0.991 | D | 0.804 | deleterious | None | None | None | None | N |
| V/Q | 0.8898 | likely_pathogenic | 0.8483 | pathogenic | -1.1 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| V/R | 0.9369 | likely_pathogenic | 0.9107 | pathogenic | -0.687 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | N |
| V/S | 0.6075 | likely_pathogenic | 0.5542 | ambiguous | -1.646 | Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | N |
| V/T | 0.4187 | ambiguous | 0.3778 | ambiguous | -1.459 | Destabilizing | 0.941 | D | 0.496 | neutral | None | None | None | None | N |
| V/W | 0.989 | likely_pathogenic | 0.9768 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| V/Y | 0.945 | likely_pathogenic | 0.9137 | pathogenic | -0.906 | Destabilizing | 0.998 | D | 0.799 | 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.