Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17126 | 51601;51602;51603 | chr2:178610150;178610149;178610148 | chr2:179474877;179474876;179474875 |
| N2AB | 15485 | 46678;46679;46680 | chr2:178610150;178610149;178610148 | chr2:179474877;179474876;179474875 |
| N2A | 14558 | 43897;43898;43899 | chr2:178610150;178610149;178610148 | chr2:179474877;179474876;179474875 |
| N2B | 8061 | 24406;24407;24408 | chr2:178610150;178610149;178610148 | chr2:179474877;179474876;179474875 |
| Novex-1 | 8186 | 24781;24782;24783 | chr2:178610150;178610149;178610148 | chr2:179474877;179474876;179474875 |
| Novex-2 | 8253 | 24982;24983;24984 | chr2:178610150;178610149;178610148 | chr2:179474877;179474876;179474875 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.999 | N | 0.56 | 0.401 | 0.3085936734 | gnomAD-4.0.0 | 3.18577E-06 | None | None | None | None | I | None | 5.67151E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 0 |
| K/M | None | None | 1.0 | N | 0.571 | 0.548 | 0.43046518545 | gnomAD-4.0.0 | 6.84513E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99784E-07 | 0 | 0 |
| K/R | rs757728544  |
0.007 | 0.999 | N | 0.478 | 0.275 | 0.264081493735 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| K/R | rs757728544 |
0.007 | 0.999 | N | 0.478 | 0.275 | 0.264081493735 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/R | rs757728544 |
0.007 | 0.999 | N | 0.478 | 0.275 | 0.264081493735 | gnomAD-4.0.0 | 8.68015E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01753E-05 | 1.0981E-05 | 1.60241E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.595 | likely_pathogenic | 0.5347 | ambiguous | -0.016 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | I |
| K/C | 0.9226 | likely_pathogenic | 0.9036 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| K/D | 0.8044 | likely_pathogenic | 0.7631 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | I |
| K/E | 0.3602 | ambiguous | 0.3047 | benign | 0.064 | Stabilizing | 0.999 | D | 0.56 | neutral | N | 0.489177402 | None | None | I |
| K/F | 0.9595 | likely_pathogenic | 0.9458 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | I |
| K/G | 0.7648 | likely_pathogenic | 0.7394 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.57 | neutral | None | None | None | None | I |
| K/H | 0.5569 | ambiguous | 0.5217 | ambiguous | -0.451 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | I |
| K/I | 0.6826 | likely_pathogenic | 0.6097 | pathogenic | 0.417 | Stabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | I |
| K/L | 0.6692 | likely_pathogenic | 0.5937 | pathogenic | 0.417 | Stabilizing | 1.0 | D | 0.57 | neutral | None | None | None | None | I |
| K/M | 0.5314 | ambiguous | 0.4564 | ambiguous | 0.167 | Stabilizing | 1.0 | D | 0.571 | neutral | N | 0.477168909 | None | None | I |
| K/N | 0.7272 | likely_pathogenic | 0.6733 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.659 | neutral | N | 0.476457666 | None | None | I |
| K/P | 0.8167 | likely_pathogenic | 0.7998 | pathogenic | 0.301 | Stabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| K/Q | 0.2418 | likely_benign | 0.2188 | benign | -0.054 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.516460004 | None | None | I |
| K/R | 0.1048 | likely_benign | 0.1074 | benign | -0.074 | Destabilizing | 0.999 | D | 0.478 | neutral | N | 0.510707468 | None | None | I |
| K/S | 0.6816 | likely_pathogenic | 0.63 | pathogenic | -0.385 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | I |
| K/T | 0.3811 | ambiguous | 0.3222 | benign | -0.225 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.520519029 | None | None | I |
| K/V | 0.6284 | likely_pathogenic | 0.5453 | ambiguous | 0.301 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | I |
| K/W | 0.9525 | likely_pathogenic | 0.9449 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| K/Y | 0.8888 | likely_pathogenic | 0.8696 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | I |
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.