Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3301 | 10126;10127;10128 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
| N2AB | 3301 | 10126;10127;10128 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
| N2A | 3301 | 10126;10127;10128 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
| N2B | 3255 | 9988;9989;9990 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
| Novex-1 | 3255 | 9988;9989;9990 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
| Novex-2 | 3255 | 9988;9989;9990 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
| Novex-3 | 3301 | 10126;10127;10128 | chr2:178764614;178764613;178764612 | chr2:179629341;179629340;179629339 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs776187090  |
-2.863 | 0.549 | D | 0.593 | 0.517 | 0.530803083455 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| A/D | rs776187090 |
-2.863 | 0.549 | D | 0.593 | 0.517 | 0.530803083455 | gnomAD-4.0.0 | 2.73632E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 2.6979E-06 | 0 | 0 |
| A/T | rs1317267651 |
-1.903 | 0.007 | N | 0.158 | 0.297 | 0.241664281697 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| A/T | rs1317267651 |
-1.903 | 0.007 | N | 0.158 | 0.297 | 0.241664281697 | gnomAD-4.0.0 | 3.18107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| A/V | None | None | 0.007 | N | 0.186 | 0.283 | 0.252162846088 | gnomAD-4.0.0 | 6.8408E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.993E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7916 | likely_pathogenic | 0.7826 | pathogenic | -1.729 | Destabilizing | 0.972 | D | 0.587 | neutral | None | None | None | None | N |
| A/D | 0.9782 | likely_pathogenic | 0.9807 | pathogenic | -2.65 | Highly Destabilizing | 0.549 | D | 0.593 | neutral | D | 0.575480646 | None | None | N |
| A/E | 0.97 | likely_pathogenic | 0.9752 | pathogenic | -2.46 | Highly Destabilizing | 0.617 | D | 0.545 | neutral | None | None | None | None | N |
| A/F | 0.9666 | likely_pathogenic | 0.9692 | pathogenic | -0.926 | Destabilizing | 0.92 | D | 0.651 | neutral | None | None | None | None | N |
| A/G | 0.4891 | ambiguous | 0.4969 | ambiguous | -1.997 | Destabilizing | 0.201 | N | 0.484 | neutral | D | 0.575334086 | None | None | N |
| A/H | 0.9895 | likely_pathogenic | 0.9908 | pathogenic | -1.938 | Destabilizing | 0.977 | D | 0.624 | neutral | None | None | None | None | N |
| A/I | 0.6513 | likely_pathogenic | 0.6579 | pathogenic | -0.447 | Destabilizing | 0.447 | N | 0.517 | neutral | None | None | None | None | N |
| A/K | 0.994 | likely_pathogenic | 0.9955 | pathogenic | -1.363 | Destabilizing | 0.447 | N | 0.543 | neutral | None | None | None | None | N |
| A/L | 0.6445 | likely_pathogenic | 0.6719 | pathogenic | -0.447 | Destabilizing | 0.25 | N | 0.491 | neutral | None | None | None | None | N |
| A/M | 0.7492 | likely_pathogenic | 0.7643 | pathogenic | -0.925 | Destabilizing | 0.92 | D | 0.624 | neutral | None | None | None | None | N |
| A/N | 0.9174 | likely_pathogenic | 0.9202 | pathogenic | -1.702 | Destabilizing | 0.447 | N | 0.592 | neutral | None | None | None | None | N |
| A/P | 0.9414 | likely_pathogenic | 0.9361 | pathogenic | -0.788 | Destabilizing | 0.896 | D | 0.617 | neutral | D | 0.524587003 | None | None | N |
| A/Q | 0.9742 | likely_pathogenic | 0.9779 | pathogenic | -1.56 | Destabilizing | 0.85 | D | 0.643 | neutral | None | None | None | None | N |
| A/R | 0.9835 | likely_pathogenic | 0.9873 | pathogenic | -1.358 | Destabilizing | 0.85 | D | 0.635 | neutral | None | None | None | None | N |
| A/S | 0.2246 | likely_benign | 0.2074 | benign | -2.117 | Highly Destabilizing | 0.016 | N | 0.229 | neutral | N | 0.517182546 | None | None | N |
| A/T | 0.1444 | likely_benign | 0.1515 | benign | -1.815 | Destabilizing | 0.007 | N | 0.158 | neutral | N | 0.491283838 | None | None | N |
| A/V | 0.258 | likely_benign | 0.2381 | benign | -0.788 | Destabilizing | 0.007 | N | 0.186 | neutral | N | 0.42079002 | None | None | N |
| A/W | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -1.469 | Destabilizing | 0.992 | D | 0.639 | neutral | None | None | None | None | N |
| A/Y | 0.9874 | likely_pathogenic | 0.9888 | pathogenic | -1.07 | Destabilizing | 0.972 | D | 0.67 | 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.