Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19098 | 57517;57518;57519 | chr2:178597790;178597789;178597788 | chr2:179462517;179462516;179462515 |
| N2AB | 17457 | 52594;52595;52596 | chr2:178597790;178597789;178597788 | chr2:179462517;179462516;179462515 |
| N2A | 16530 | 49813;49814;49815 | chr2:178597790;178597789;178597788 | chr2:179462517;179462516;179462515 |
| N2B | 10033 | 30322;30323;30324 | chr2:178597790;178597789;178597788 | chr2:179462517;179462516;179462515 |
| Novex-1 | 10158 | 30697;30698;30699 | chr2:178597790;178597789;178597788 | chr2:179462517;179462516;179462515 |
| Novex-2 | 10225 | 30898;30899;30900 | chr2:178597790;178597789;178597788 | chr2:179462517;179462516;179462515 |
| 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/A | rs766691172  |
-1.368 | 0.999 | N | 0.604 | 0.371 | 0.564616066205 | 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 |
| V/A | rs766691172 |
-1.368 | 0.999 | N | 0.604 | 0.371 | 0.564616066205 | gnomAD-4.0.0 | 3.18522E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86648E-05 | 0 |
| V/I | rs727503592 |
-0.438 | 0.997 | N | 0.545 | 0.254 | 0.592455534737 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30804E-04 | None | 0 | 0 | 0 |
| V/I | rs727503592 |
-0.438 | 0.997 | N | 0.545 | 0.254 | 0.592455534737 | gnomAD-4.0.0 | 8.89795E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29744E-06 | 6.95781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7123 | likely_pathogenic | 0.73 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.491900781 | None | None | N |
| V/C | 0.8628 | likely_pathogenic | 0.8452 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/D | 0.9795 | likely_pathogenic | 0.9816 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.489705255 | None | None | N |
| V/E | 0.9467 | likely_pathogenic | 0.9496 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/F | 0.6 | likely_pathogenic | 0.581 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.469813355 | None | None | N |
| V/G | 0.8148 | likely_pathogenic | 0.8189 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.530805886 | None | None | N |
| V/H | 0.9764 | likely_pathogenic | 0.9753 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| V/I | 0.1414 | likely_benign | 0.1381 | benign | -0.484 | Destabilizing | 0.997 | D | 0.545 | neutral | N | 0.488321758 | None | None | N |
| V/K | 0.956 | likely_pathogenic | 0.9598 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/L | 0.5174 | ambiguous | 0.4911 | ambiguous | -0.484 | Destabilizing | 0.997 | D | 0.593 | neutral | N | 0.439586449 | None | None | N |
| V/M | 0.4059 | ambiguous | 0.4382 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/N | 0.9177 | likely_pathogenic | 0.927 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| V/P | 0.9891 | likely_pathogenic | 0.9881 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9014 | likely_pathogenic | 0.9056 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| V/R | 0.9444 | likely_pathogenic | 0.9433 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| V/S | 0.8224 | likely_pathogenic | 0.8393 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/T | 0.7272 | likely_pathogenic | 0.7279 | pathogenic | -1.097 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| V/W | 0.9892 | likely_pathogenic | 0.9883 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| V/Y | 0.9523 | likely_pathogenic | 0.9491 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.76 | 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.