Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14357 | 43294;43295;43296 | chr2:178633204;178633203;178633202 | chr2:179497931;179497930;179497929 |
| N2AB | 12716 | 38371;38372;38373 | chr2:178633204;178633203;178633202 | chr2:179497931;179497930;179497929 |
| N2A | 11789 | 35590;35591;35592 | chr2:178633204;178633203;178633202 | chr2:179497931;179497930;179497929 |
| N2B | 5292 | 16099;16100;16101 | chr2:178633204;178633203;178633202 | chr2:179497931;179497930;179497929 |
| Novex-1 | 5417 | 16474;16475;16476 | chr2:178633204;178633203;178633202 | chr2:179497931;179497930;179497929 |
| Novex-2 | 5484 | 16675;16676;16677 | chr2:178633204;178633203;178633202 | chr2:179497931;179497930;179497929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs750958593  |
None | 0.07 | N | 0.291 | 0.13 | 0.134241683229 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs750958593 |
None | 0.07 | N | 0.291 | 0.13 | 0.134241683229 | gnomAD-4.0.0 | 3.10034E-06 | None | None | None | None | N | None | 2.6718E-05 | 0 | None | 0 | 2.23874E-05 | None | 0 | 0 | 1.69579E-06 | 0 | 0 |
| P/S | rs750958593 |
-0.592 | 0.146 | N | 0.305 | 0.245 | 0.148003135375 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| P/S | rs750958593 |
-0.592 | 0.146 | N | 0.305 | 0.245 | 0.148003135375 | gnomAD-4.0.0 | 1.36926E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87399E-05 | 0 | 0 | 1.16122E-05 | 0 |
| P/T | None | -0.479 | 0.002 | N | 0.148 | 0.107 | 0.156986980423 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/T | None | -0.479 | 0.002 | N | 0.148 | 0.107 | 0.156986980423 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | None | -0.479 | 0.002 | N | 0.148 | 0.107 | 0.156986980423 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47059E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0885 | likely_benign | 0.0835 | benign | -0.771 | Destabilizing | 0.07 | N | 0.291 | neutral | N | 0.431039731 | None | None | N |
| P/C | 0.5758 | likely_pathogenic | 0.5619 | ambiguous | -0.591 | Destabilizing | 0.989 | D | 0.424 | neutral | None | None | None | None | N |
| P/D | 0.3991 | ambiguous | 0.3419 | ambiguous | -0.642 | Destabilizing | 0.524 | D | 0.385 | neutral | None | None | None | None | N |
| P/E | 0.239 | likely_benign | 0.2147 | benign | -0.749 | Destabilizing | 0.524 | D | 0.39 | neutral | None | None | None | None | N |
| P/F | 0.4648 | ambiguous | 0.4087 | ambiguous | -0.891 | Destabilizing | 0.887 | D | 0.542 | neutral | None | None | None | None | N |
| P/G | 0.4323 | ambiguous | 0.3852 | ambiguous | -0.94 | Destabilizing | 0.524 | D | 0.353 | neutral | None | None | None | None | N |
| P/H | 0.2098 | likely_benign | 0.1865 | benign | -0.497 | Destabilizing | 0.985 | D | 0.403 | neutral | N | 0.431496459 | None | None | N |
| P/I | 0.1773 | likely_benign | 0.1711 | benign | -0.462 | Destabilizing | 0.185 | N | 0.359 | neutral | None | None | None | None | N |
| P/K | 0.3113 | likely_benign | 0.273 | benign | -0.7 | Destabilizing | 0.524 | D | 0.389 | neutral | None | None | None | None | N |
| P/L | 0.0985 | likely_benign | 0.0966 | benign | -0.462 | Destabilizing | 0.146 | N | 0.39 | neutral | N | 0.430530746 | None | None | N |
| P/M | 0.2648 | likely_benign | 0.2483 | benign | -0.373 | Destabilizing | 0.887 | D | 0.459 | neutral | None | None | None | None | N |
| P/N | 0.3187 | likely_benign | 0.2736 | benign | -0.354 | Destabilizing | 0.524 | D | 0.507 | neutral | None | None | None | None | N |
| P/Q | 0.1718 | likely_benign | 0.1508 | benign | -0.637 | Destabilizing | 0.887 | D | 0.486 | neutral | None | None | None | None | N |
| P/R | 0.2313 | likely_benign | 0.2066 | benign | -0.104 | Destabilizing | 0.744 | D | 0.513 | neutral | N | 0.438512535 | None | None | N |
| P/S | 0.1437 | likely_benign | 0.1228 | benign | -0.715 | Destabilizing | 0.146 | N | 0.305 | neutral | N | 0.476460185 | None | None | N |
| P/T | 0.0922 | likely_benign | 0.0847 | benign | -0.728 | Destabilizing | 0.002 | N | 0.148 | neutral | N | 0.431999919 | None | None | N |
| P/V | 0.1426 | likely_benign | 0.1408 | benign | -0.529 | Destabilizing | 0.002 | N | 0.221 | neutral | None | None | None | None | N |
| P/W | 0.6926 | likely_pathogenic | 0.6456 | pathogenic | -0.968 | Destabilizing | 0.989 | D | 0.499 | neutral | None | None | None | None | N |
| P/Y | 0.4374 | ambiguous | 0.3925 | ambiguous | -0.692 | Destabilizing | 0.96 | D | 0.517 | neutral | None | None | None | None | 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.