Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24384 | 73375;73376;73377 | chr2:178572982;178572981;178572980 | chr2:179437709;179437708;179437707 |
| N2AB | 22743 | 68452;68453;68454 | chr2:178572982;178572981;178572980 | chr2:179437709;179437708;179437707 |
| N2A | 21816 | 65671;65672;65673 | chr2:178572982;178572981;178572980 | chr2:179437709;179437708;179437707 |
| N2B | 15319 | 46180;46181;46182 | chr2:178572982;178572981;178572980 | chr2:179437709;179437708;179437707 |
| Novex-1 | 15444 | 46555;46556;46557 | chr2:178572982;178572981;178572980 | chr2:179437709;179437708;179437707 |
| Novex-2 | 15511 | 46756;46757;46758 | chr2:178572982;178572981;178572980 | chr2:179437709;179437708;179437707 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1298487582  |
-1.199 | 0.009 | N | 0.527 | 0.298 | 0.423480098753 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.94E-06 | 0 |
| Y/C | rs1298487582 |
-1.199 | 0.009 | N | 0.527 | 0.298 | 0.423480098753 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs1298487582 |
-1.199 | 0.009 | N | 0.527 | 0.298 | 0.423480098753 | gnomAD-4.0.0 | 6.81924E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47805E-06 | 1.09844E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.6855 | likely_pathogenic | 0.7532 | pathogenic | -1.991 | Destabilizing | 0.447 | N | 0.54 | neutral | None | None | None | None | N |
| Y/C | 0.1194 | likely_benign | 0.1398 | benign | -1.463 | Destabilizing | 0.009 | N | 0.527 | neutral | N | 0.503130921 | None | None | N |
| Y/D | 0.8546 | likely_pathogenic | 0.8857 | pathogenic | -1.028 | Destabilizing | 0.963 | D | 0.613 | neutral | D | 0.522548586 | None | None | N |
| Y/E | 0.9117 | likely_pathogenic | 0.9373 | pathogenic | -0.845 | Destabilizing | 0.972 | D | 0.571 | neutral | None | None | None | None | N |
| Y/F | 0.0532 | likely_benign | 0.053 | benign | -0.517 | Destabilizing | 0.002 | N | 0.157 | neutral | N | 0.425342141 | None | None | N |
| Y/G | 0.7797 | likely_pathogenic | 0.8253 | pathogenic | -2.373 | Highly Destabilizing | 0.766 | D | 0.576 | neutral | None | None | None | None | N |
| Y/H | 0.2922 | likely_benign | 0.3436 | ambiguous | -0.945 | Destabilizing | 0.963 | D | 0.466 | neutral | N | 0.472728819 | None | None | N |
| Y/I | 0.4788 | ambiguous | 0.5439 | ambiguous | -0.791 | Destabilizing | 0.447 | N | 0.443 | neutral | None | None | None | None | N |
| Y/K | 0.8335 | likely_pathogenic | 0.8711 | pathogenic | -1.522 | Destabilizing | 0.92 | D | 0.579 | neutral | None | None | None | None | N |
| Y/L | 0.4771 | ambiguous | 0.4992 | ambiguous | -0.791 | Destabilizing | 0.25 | N | 0.441 | neutral | None | None | None | None | N |
| Y/M | 0.5851 | likely_pathogenic | 0.6487 | pathogenic | -0.826 | Destabilizing | 0.92 | D | 0.533 | neutral | None | None | None | None | N |
| Y/N | 0.6457 | likely_pathogenic | 0.697 | pathogenic | -2.201 | Highly Destabilizing | 0.963 | D | 0.587 | neutral | N | 0.510774207 | None | None | N |
| Y/P | 0.9926 | likely_pathogenic | 0.9938 | pathogenic | -1.193 | Destabilizing | 0.972 | D | 0.626 | neutral | None | None | None | None | N |
| Y/Q | 0.7638 | likely_pathogenic | 0.8266 | pathogenic | -1.849 | Destabilizing | 0.972 | D | 0.529 | neutral | None | None | None | None | N |
| Y/R | 0.7157 | likely_pathogenic | 0.7699 | pathogenic | -1.48 | Destabilizing | 0.92 | D | 0.59 | neutral | None | None | None | None | N |
| Y/S | 0.5586 | ambiguous | 0.6298 | pathogenic | -2.756 | Highly Destabilizing | 0.549 | D | 0.531 | neutral | N | 0.487808107 | None | None | N |
| Y/T | 0.7157 | likely_pathogenic | 0.7802 | pathogenic | -2.452 | Highly Destabilizing | 0.617 | D | 0.563 | neutral | None | None | None | None | N |
| Y/V | 0.4096 | ambiguous | 0.4612 | ambiguous | -1.193 | Destabilizing | 0.447 | N | 0.457 | neutral | None | None | None | None | N |
| Y/W | 0.4074 | ambiguous | 0.4191 | ambiguous | 0.016 | Stabilizing | 0.972 | D | 0.472 | neutral | 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.