Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4805 | 14638;14639;14640 | chr2:178736033;178736032;178736031 | chr2:179600760;179600759;179600758 |
| N2AB | 4488 | 13687;13688;13689 | chr2:178736033;178736032;178736031 | chr2:179600760;179600759;179600758 |
| N2A | 3561 | 10906;10907;10908 | chr2:178736033;178736032;178736031 | chr2:179600760;179600759;179600758 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs2081384846  |
None | 0.997 | N | 0.527 | 0.373 | 0.458554320643 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs2081384846 |
None | 0.997 | N | 0.527 | 0.373 | 0.458554320643 | gnomAD-4.0.0 | 6.57047E-06 | None | None | None | None | I | None | 2.41208E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.576 | N | 0.281 | 0.252 | 0.377274123778 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/P | rs1176268416 |
-0.105 | 0.997 | N | 0.527 | 0.4 | 0.414150184683 | gnomAD-2.1.1 | 8.15E-06 | None | None | None | None | I | None | 0 | 5.86E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs1176268416 |
-0.105 | 0.997 | N | 0.527 | 0.4 | 0.414150184683 | gnomAD-4.0.0 | 3.202E-06 | None | None | None | None | I | None | 0 | 4.6032E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1622 | likely_benign | 0.2011 | benign | -0.371 | Destabilizing | 0.9 | D | 0.473 | neutral | N | 0.482136354 | None | None | I |
| T/C | 0.6783 | likely_pathogenic | 0.7517 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.515 | neutral | None | None | None | None | I |
| T/D | 0.6487 | likely_pathogenic | 0.7885 | pathogenic | 0.688 | Stabilizing | 0.995 | D | 0.469 | neutral | None | None | None | None | I |
| T/E | 0.4518 | ambiguous | 0.6031 | pathogenic | 0.665 | Stabilizing | 0.983 | D | 0.489 | neutral | None | None | None | None | I |
| T/F | 0.4423 | ambiguous | 0.5426 | ambiguous | -0.692 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | I |
| T/G | 0.5438 | ambiguous | 0.6417 | pathogenic | -0.557 | Destabilizing | 0.983 | D | 0.483 | neutral | None | None | None | None | I |
| T/H | 0.4337 | ambiguous | 0.5257 | ambiguous | -0.71 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | I |
| T/I | 0.3245 | likely_benign | 0.3974 | ambiguous | 0.009 | Stabilizing | 0.997 | D | 0.527 | neutral | N | 0.439291039 | None | None | I |
| T/K | 0.3617 | ambiguous | 0.5226 | ambiguous | -0.168 | Destabilizing | 0.576 | D | 0.281 | neutral | N | 0.473981169 | None | None | I |
| T/L | 0.1808 | likely_benign | 0.2227 | benign | 0.009 | Stabilizing | 0.983 | D | 0.474 | neutral | None | None | None | None | I |
| T/M | 0.1473 | likely_benign | 0.179 | benign | -0.085 | Destabilizing | 1.0 | D | 0.505 | neutral | None | None | None | None | I |
| T/N | 0.2495 | likely_benign | 0.325 | benign | -0.138 | Destabilizing | 0.995 | D | 0.453 | neutral | None | None | None | None | I |
| T/P | 0.2611 | likely_benign | 0.3788 | ambiguous | -0.087 | Destabilizing | 0.997 | D | 0.527 | neutral | N | 0.504953121 | None | None | I |
| T/Q | 0.3417 | ambiguous | 0.4458 | ambiguous | -0.229 | Destabilizing | 0.995 | D | 0.527 | neutral | None | None | None | None | I |
| T/R | 0.2848 | likely_benign | 0.4306 | ambiguous | -0.007 | Destabilizing | 0.987 | D | 0.489 | neutral | N | 0.458846608 | None | None | I |
| T/S | 0.2041 | likely_benign | 0.2403 | benign | -0.445 | Destabilizing | 0.37 | N | 0.267 | neutral | N | 0.459207292 | None | None | I |
| T/V | 0.2604 | likely_benign | 0.3011 | benign | -0.087 | Destabilizing | 0.983 | D | 0.447 | neutral | None | None | None | None | I |
| T/W | 0.782 | likely_pathogenic | 0.8521 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | I |
| T/Y | 0.4677 | ambiguous | 0.5556 | ambiguous | -0.391 | Destabilizing | 0.999 | D | 0.613 | 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.