Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33024 | 99295;99296;99297 | chr2:178538759;178538758;178538757 | chr2:179403486;179403485;179403484 |
| N2AB | 31383 | 94372;94373;94374 | chr2:178538759;178538758;178538757 | chr2:179403486;179403485;179403484 |
| N2A | 30456 | 91591;91592;91593 | chr2:178538759;178538758;178538757 | chr2:179403486;179403485;179403484 |
| N2B | 23959 | 72100;72101;72102 | chr2:178538759;178538758;178538757 | chr2:179403486;179403485;179403484 |
| Novex-1 | 24084 | 72475;72476;72477 | chr2:178538759;178538758;178538757 | chr2:179403486;179403485;179403484 |
| Novex-2 | 24151 | 72676;72677;72678 | chr2:178538759;178538758;178538757 | chr2:179403486;179403485;179403484 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs200744054  |
None | 0.27 | N | 0.42 | 0.21 | 0.49676076625 | gnomAD-4.0.0 | 1.20035E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31254E-06 | 0 | 0 |
| C/S | rs1692930141 |
None | 0.01 | N | 0.128 | 0.21 | 0.264081493735 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs1692930141 |
None | 0.01 | N | 0.128 | 0.21 | 0.264081493735 | gnomAD-4.0.0 | 1.85918E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69531E-06 | 0 | 1.60123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2753 | likely_benign | 0.2877 | benign | -0.689 | Destabilizing | 0.176 | N | 0.204 | neutral | None | None | None | None | I |
| C/D | 0.4744 | ambiguous | 0.444 | ambiguous | 0.504 | Stabilizing | 0.704 | D | 0.461 | neutral | None | None | None | None | I |
| C/E | 0.6198 | likely_pathogenic | 0.6 | pathogenic | 0.468 | Stabilizing | 0.329 | N | 0.425 | neutral | None | None | None | None | I |
| C/F | 0.1302 | likely_benign | 0.1357 | benign | -0.704 | Destabilizing | 0.927 | D | 0.505 | neutral | N | 0.350953452 | None | None | I |
| C/G | 0.1466 | likely_benign | 0.141 | benign | -0.824 | Destabilizing | 0.27 | N | 0.42 | neutral | N | 0.377793337 | None | None | I |
| C/H | 0.3325 | likely_benign | 0.3012 | benign | -0.895 | Destabilizing | 0.007 | N | 0.289 | neutral | None | None | None | None | I |
| C/I | 0.386 | ambiguous | 0.4203 | ambiguous | -0.417 | Destabilizing | 0.828 | D | 0.477 | neutral | None | None | None | None | I |
| C/K | 0.6737 | likely_pathogenic | 0.6269 | pathogenic | 0.133 | Stabilizing | 0.543 | D | 0.469 | neutral | None | None | None | None | I |
| C/L | 0.3876 | ambiguous | 0.3911 | ambiguous | -0.417 | Destabilizing | 0.495 | N | 0.378 | neutral | None | None | None | None | I |
| C/M | 0.4149 | ambiguous | 0.4384 | ambiguous | 0.009 | Stabilizing | 0.981 | D | 0.415 | neutral | None | None | None | None | I |
| C/N | 0.2253 | likely_benign | 0.2181 | benign | 0.498 | Stabilizing | 0.704 | D | 0.506 | neutral | None | None | None | None | I |
| C/P | 0.9691 | likely_pathogenic | 0.9652 | pathogenic | -0.484 | Destabilizing | 0.828 | D | 0.544 | neutral | None | None | None | None | I |
| C/Q | 0.4299 | ambiguous | 0.4064 | ambiguous | 0.327 | Stabilizing | 0.085 | N | 0.227 | neutral | None | None | None | None | I |
| C/R | 0.4172 | ambiguous | 0.3568 | ambiguous | 0.387 | Stabilizing | 0.642 | D | 0.534 | neutral | N | 0.356897989 | None | None | I |
| C/S | 0.1427 | likely_benign | 0.1391 | benign | 0.033 | Stabilizing | 0.01 | N | 0.128 | neutral | N | 0.264622546 | None | None | I |
| C/T | 0.2418 | likely_benign | 0.2543 | benign | 0.122 | Stabilizing | 0.329 | N | 0.379 | neutral | None | None | None | None | I |
| C/V | 0.327 | likely_benign | 0.3513 | ambiguous | -0.484 | Destabilizing | 0.704 | D | 0.401 | neutral | None | None | None | None | I |
| C/W | 0.3592 | ambiguous | 0.3609 | ambiguous | -0.651 | Destabilizing | 0.993 | D | 0.434 | neutral | N | 0.42329634 | None | None | I |
| C/Y | 0.1702 | likely_benign | 0.164 | benign | -0.514 | Destabilizing | 0.863 | D | 0.531 | neutral | N | 0.347817146 | 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.