Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21369 | 64330;64331;64332 | chr2:178586796;178586795;178586794 | chr2:179451523;179451522;179451521 |
| N2AB | 19728 | 59407;59408;59409 | chr2:178586796;178586795;178586794 | chr2:179451523;179451522;179451521 |
| N2A | 18801 | 56626;56627;56628 | chr2:178586796;178586795;178586794 | chr2:179451523;179451522;179451521 |
| N2B | 12304 | 37135;37136;37137 | chr2:178586796;178586795;178586794 | chr2:179451523;179451522;179451521 |
| Novex-1 | 12429 | 37510;37511;37512 | chr2:178586796;178586795;178586794 | chr2:179451523;179451522;179451521 |
| Novex-2 | 12496 | 37711;37712;37713 | chr2:178586796;178586795;178586794 | chr2:179451523;179451522;179451521 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs778476727  |
-1.218 | 1.0 | N | 0.896 | 0.434 | 0.59800879648 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| P/R | rs778476727 |
-1.218 | 1.0 | N | 0.896 | 0.434 | 0.59800879648 | gnomAD-4.0.0 | 1.59662E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86453E-06 | 0 | 0 |
| P/S | rs1388682620 |
-2.314 | 1.0 | N | 0.839 | 0.388 | 0.350964488264 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14916E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1388682620 |
-2.314 | 1.0 | N | 0.839 | 0.388 | 0.350964488264 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1388682620 |
-2.314 | 1.0 | N | 0.839 | 0.388 | 0.350964488264 | gnomAD-4.0.0 | 6.58181E-06 | None | None | None | None | N | None | 2.41569E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2852 | likely_benign | 0.2201 | benign | -1.821 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.502487842 | None | None | N |
| P/C | 0.9041 | likely_pathogenic | 0.8659 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/D | 0.9881 | likely_pathogenic | 0.9809 | pathogenic | -2.646 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/E | 0.9356 | likely_pathogenic | 0.8955 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/F | 0.9539 | likely_pathogenic | 0.928 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/G | 0.8885 | likely_pathogenic | 0.8609 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.8765 | likely_pathogenic | 0.8326 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.506619924 | None | None | N |
| P/I | 0.8649 | likely_pathogenic | 0.7805 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/K | 0.9492 | likely_pathogenic | 0.9185 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/L | 0.7234 | likely_pathogenic | 0.6235 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.521343591 | None | None | N |
| P/M | 0.8838 | likely_pathogenic | 0.8169 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/N | 0.9593 | likely_pathogenic | 0.9399 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.8341 | likely_pathogenic | 0.7783 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/R | 0.8733 | likely_pathogenic | 0.8397 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.896 | deleterious | N | 0.490615583 | None | None | N |
| P/S | 0.6453 | likely_pathogenic | 0.5643 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.47257378 | None | None | N |
| P/T | 0.715 | likely_pathogenic | 0.6087 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.498124001 | None | None | N |
| P/V | 0.7594 | likely_pathogenic | 0.6606 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/W | 0.9882 | likely_pathogenic | 0.9821 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/Y | 0.9623 | likely_pathogenic | 0.9381 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.905 | 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.