Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
| N2AB | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
| N2A | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
| N2B | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
| Novex-1 | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
| Novex-2 | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
| Novex-3 | 51 | 376;377;378 | chr2:178802282;178802281;178802280 | chr2:179667009;179667008;179667007 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/R | rs868419744  |
-1.321 | 1.0 | N | 0.687 | 0.6 | 0.798374310559 | gnomAD-2.1.1 | 7.07E-06 | None | None | None | -0.898(TCAP) | N | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/R | rs868419744 |
-1.321 | 1.0 | N | 0.687 | 0.6 | 0.798374310559 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.898(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | rs868419744 |
-1.321 | 1.0 | N | 0.687 | 0.6 | 0.798374310559 | gnomAD-4.0.0 | 3.09775E-06 | None | None | None | -0.898(TCAP) | N | None | 5.33718E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60036E-05 |
| L/V | None | None | 0.996 | N | 0.505 | 0.369 | 0.574195325796 | gnomAD-4.0.0 | 6.84068E-07 | None | None | None | -0.693(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99292E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.4069 | ambiguous | 0.6379 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | -0.524(TCAP) | N |
| L/C | 0.9236 | likely_pathogenic | 0.9684 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | -0.502(TCAP) | N |
| L/D | 0.8702 | likely_pathogenic | 0.9584 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | -0.368(TCAP) | N |
| L/E | 0.544 | ambiguous | 0.7685 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | -0.5(TCAP) | N |
| L/F | 0.2313 | likely_benign | 0.3624 | ambiguous | -1.233 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | -0.343(TCAP) | N |
| L/G | 0.7897 | likely_pathogenic | 0.9179 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | -0.449(TCAP) | N |
| L/H | 0.4898 | ambiguous | 0.7248 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | 0.144(TCAP) | N |
| L/I | 0.1186 | likely_benign | 0.1614 | benign | -0.847 | Destabilizing | 0.996 | D | 0.457 | neutral | None | None | None | -0.784(TCAP) | N |
| L/K | 0.5774 | likely_pathogenic | 0.7757 | pathogenic | -1.281 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | -0.791(TCAP) | N |
| L/M | 0.1687 | likely_benign | 0.2315 | benign | -0.775 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.49795071 | None | -0.651(TCAP) | N |
| L/N | 0.6306 | likely_pathogenic | 0.8224 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | -0.65(TCAP) | N |
| L/P | 0.8133 | likely_pathogenic | 0.9321 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.497147967 | None | -0.693(TCAP) | N |
| L/Q | 0.2602 | likely_benign | 0.4502 | ambiguous | -1.257 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.441423793 | None | -0.631(TCAP) | N |
| L/R | 0.4515 | ambiguous | 0.6759 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.417729981 | None | -0.898(TCAP) | N |
| L/S | 0.4656 | ambiguous | 0.7339 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | -0.295(TCAP) | N |
| L/T | 0.4022 | ambiguous | 0.6291 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | -0.426(TCAP) | N |
| L/V | 0.1323 | likely_benign | 0.1934 | benign | -1.14 | Destabilizing | 0.996 | D | 0.505 | neutral | N | 0.486433867 | None | -0.693(TCAP) | N |
| L/W | 0.5391 | ambiguous | 0.7459 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | -0.454(TCAP) | N |
| L/Y | 0.6055 | likely_pathogenic | 0.7811 | pathogenic | -1.069 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | -0.422(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.