Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7058 | 21397;21398;21399 | chr2:178724087;178724086;178724085 | chr2:179588814;179588813;179588812 |
| N2AB | 6741 | 20446;20447;20448 | chr2:178724087;178724086;178724085 | chr2:179588814;179588813;179588812 |
| N2A | 5814 | 17665;17666;17667 | chr2:178724087;178724086;178724085 | chr2:179588814;179588813;179588812 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs72648964  |
-0.038 | 0.468 | D | 0.583 | 0.632 | None | gnomAD-2.1.1 | 1.9129E-03 | None | None | None | None | I | None | 9.23243E-03 | 1.27797E-03 | None | 1.67831E-02 | 0 | None | 3.9285E-04 | None | 0 | 4.80565E-04 | 2.68134E-03 |
| G/D | rs72648964 |
-0.038 | 0.468 | D | 0.583 | 0.632 | None | gnomAD-3.1.2 | 3.3265E-03 | None | None | None | None | I | None | 8.93029E-03 | 2.94734E-03 | 0 | 1.5265E-02 | 0 | None | 0 | 6.32911E-03 | 3.97012E-04 | 4.13907E-04 | 3.34288E-03 |
| G/D | rs72648964 |
-0.038 | 0.468 | D | 0.583 | 0.632 | None | 1000 genomes | 3.79393E-03 | None | None | None | None | I | None | 1.36E-02 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs72648964 |
-0.038 | 0.468 | D | 0.583 | 0.632 | None | gnomAD-4.0.0 | 1.22915E-03 | None | None | None | None | I | None | 9.09406E-03 | 1.76785E-03 | None | 1.67343E-02 | 0 | None | 0 | 6.77238E-03 | 3.89131E-04 | 4.94245E-04 | 2.48206E-03 |
| G/R | rs786205401 |
-0.239 | 0.468 | D | 0.637 | 0.745 | 0.85594711346 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs786205401 |
-0.239 | 0.468 | D | 0.637 | 0.745 | 0.85594711346 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs786205401 |
-0.239 | 0.468 | D | 0.637 | 0.745 | 0.85594711346 | gnomAD-4.0.0 | 1.31447E-05 | None | None | None | None | I | None | 4.82579E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 0.004 | D | 0.33 | 0.546 | 0.451118754121 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2309 | likely_benign | 0.2028 | benign | -0.219 | Destabilizing | 0.002 | N | 0.295 | neutral | D | 0.604556301 | None | None | I |
| G/C | 0.4304 | ambiguous | 0.4007 | ambiguous | -0.916 | Destabilizing | 0.931 | D | 0.702 | prob.neutral | D | 0.669703487 | None | None | I |
| G/D | 0.1898 | likely_benign | 0.1528 | benign | -0.096 | Destabilizing | 0.468 | N | 0.583 | neutral | D | 0.604567019 | None | None | I |
| G/E | 0.2332 | likely_benign | 0.2095 | benign | -0.244 | Destabilizing | 0.539 | D | 0.631 | neutral | None | None | None | None | I |
| G/F | 0.6829 | likely_pathogenic | 0.6368 | pathogenic | -0.864 | Destabilizing | 0.826 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/H | 0.3846 | ambiguous | 0.3326 | benign | -0.411 | Destabilizing | 0.947 | D | 0.664 | neutral | None | None | None | None | I |
| G/I | 0.6416 | likely_pathogenic | 0.6063 | pathogenic | -0.34 | Destabilizing | 0.7 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/K | 0.4351 | ambiguous | 0.4031 | ambiguous | -0.603 | Destabilizing | 0.02 | N | 0.525 | neutral | None | None | None | None | I |
| G/L | 0.5739 | likely_pathogenic | 0.5346 | ambiguous | -0.34 | Destabilizing | 0.7 | D | 0.668 | neutral | None | None | None | None | I |
| G/M | 0.6717 | likely_pathogenic | 0.6311 | pathogenic | -0.445 | Destabilizing | 0.982 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/N | 0.2864 | likely_benign | 0.2375 | benign | -0.348 | Destabilizing | 0.539 | D | 0.569 | neutral | None | None | None | None | I |
| G/P | 0.8775 | likely_pathogenic | 0.8435 | pathogenic | -0.267 | Destabilizing | 0.7 | D | 0.647 | neutral | None | None | None | None | I |
| G/Q | 0.3471 | ambiguous | 0.316 | benign | -0.573 | Destabilizing | 0.7 | D | 0.652 | neutral | None | None | None | None | I |
| G/R | 0.3005 | likely_benign | 0.2757 | benign | -0.255 | Destabilizing | 0.468 | N | 0.637 | neutral | D | 0.631921369 | None | None | I |
| G/S | 0.1544 | likely_benign | 0.1305 | benign | -0.572 | Destabilizing | 0.004 | N | 0.33 | neutral | D | 0.604586661 | None | None | I |
| G/T | 0.3192 | likely_benign | 0.2853 | benign | -0.636 | Destabilizing | 0.539 | D | 0.638 | neutral | None | None | None | None | I |
| G/V | 0.4685 | ambiguous | 0.4332 | ambiguous | -0.267 | Destabilizing | 0.468 | N | 0.663 | neutral | D | 0.669501683 | None | None | I |
| G/W | 0.5206 | ambiguous | 0.47 | ambiguous | -1.014 | Destabilizing | 0.982 | D | 0.638 | neutral | None | None | None | None | I |
| G/Y | 0.5233 | ambiguous | 0.4522 | ambiguous | -0.656 | Destabilizing | 0.947 | D | 0.705 | prob.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.