Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
| N2AB | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
| N2A | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
| N2B | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
| Novex-1 | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
| Novex-2 | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
| Novex-3 | 30 | 313;314;315 | chr2:178804555;178804554;178804553 | chr2:179669282;179669281;179669280 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs767153909  |
-0.568 | 0.995 | N | 0.538 | 0.307 | 0.302793454619 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | -0.652(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| S/N | rs767153909 |
-0.568 | 0.995 | N | 0.538 | 0.307 | 0.302793454619 | gnomAD-4.0.0 | 8.21017E-06 | None | None | None | -0.652(TCAP) | N | None | 1.19489E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29559E-06 | 0 | 1.65618E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1056 | likely_benign | 0.0925 | benign | -0.521 | Destabilizing | 0.754 | D | 0.29 | neutral | None | None | None | -0.185(TCAP) | N |
| S/C | 0.4019 | ambiguous | 0.3437 | ambiguous | -0.287 | Destabilizing | 0.354 | N | 0.284 | neutral | N | 0.512077481 | None | -0.362(TCAP) | N |
| S/D | 0.6226 | likely_pathogenic | 0.5077 | ambiguous | 0.189 | Stabilizing | 1.0 | D | 0.537 | neutral | None | None | None | -0.471(TCAP) | N |
| S/E | 0.6154 | likely_pathogenic | 0.5241 | ambiguous | 0.127 | Stabilizing | 1.0 | D | 0.549 | neutral | None | None | None | -0.577(TCAP) | N |
| S/F | 0.3639 | ambiguous | 0.2567 | benign | -0.972 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | -0.217(TCAP) | N |
| S/G | 0.1692 | likely_benign | 0.1452 | benign | -0.691 | Destabilizing | 0.997 | D | 0.404 | neutral | N | 0.494780398 | None | -0.155(TCAP) | N |
| S/H | 0.4619 | ambiguous | 0.3808 | ambiguous | -1.214 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | 0.493(TCAP) | N |
| S/I | 0.3073 | likely_benign | 0.2256 | benign | -0.196 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.509862529 | None | -0.322(TCAP) | N |
| S/K | 0.7147 | likely_pathogenic | 0.6218 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.52 | neutral | None | None | None | -0.615(TCAP) | N |
| S/L | 0.1865 | likely_benign | 0.1392 | benign | -0.196 | Destabilizing | 0.997 | D | 0.559 | neutral | None | None | None | -0.322(TCAP) | N |
| S/M | 0.3576 | ambiguous | 0.282 | benign | 0.082 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | 0.009(TCAP) | N |
| S/N | 0.2694 | likely_benign | 0.2012 | benign | -0.273 | Destabilizing | 0.995 | D | 0.538 | neutral | N | 0.488302637 | None | -0.652(TCAP) | N |
| S/P | 0.9285 | likely_pathogenic | 0.8834 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | -0.269(TCAP) | N |
| S/Q | 0.5286 | ambiguous | 0.4634 | ambiguous | -0.483 | Destabilizing | 1.0 | D | 0.583 | neutral | None | None | None | -0.614(TCAP) | N |
| S/R | 0.5613 | ambiguous | 0.461 | ambiguous | -0.352 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.467378034 | None | -0.526(TCAP) | N |
| S/T | 0.0984 | likely_benign | 0.0845 | benign | -0.365 | Destabilizing | 0.947 | D | 0.389 | neutral | N | 0.420227761 | None | -0.537(TCAP) | N |
| S/V | 0.3118 | likely_benign | 0.2389 | benign | -0.273 | Destabilizing | 0.998 | D | 0.606 | neutral | None | None | None | -0.269(TCAP) | N |
| S/W | 0.5548 | ambiguous | 0.4638 | ambiguous | -0.952 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | -0.163(TCAP) | N |
| S/Y | 0.3784 | ambiguous | 0.2803 | benign | -0.678 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | 0.035(TCAP) | 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.