Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13831 | 41716;41717;41718 | chr2:178636080;178636079;178636078 | chr2:179500807;179500806;179500805 |
| N2AB | 12190 | 36793;36794;36795 | chr2:178636080;178636079;178636078 | chr2:179500807;179500806;179500805 |
| N2A | 11263 | 34012;34013;34014 | chr2:178636080;178636079;178636078 | chr2:179500807;179500806;179500805 |
| N2B | 4766 | 14521;14522;14523 | chr2:178636080;178636079;178636078 | chr2:179500807;179500806;179500805 |
| Novex-1 | 4891 | 14896;14897;14898 | chr2:178636080;178636079;178636078 | chr2:179500807;179500806;179500805 |
| Novex-2 | 4958 | 15097;15098;15099 | chr2:178636080;178636079;178636078 | chr2:179500807;179500806;179500805 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs2154230322  |
None | 1.0 | N | 0.56 | 0.44 | 0.739142977588 | 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 |
| I/V | rs1223688724 |
None | 0.993 | N | 0.347 | 0.283 | 0.547384771329 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5568 | ambiguous | 0.6816 | pathogenic | -0.402 | Destabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | I |
| I/C | 0.9228 | likely_pathogenic | 0.9461 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.532 | neutral | None | None | None | None | I |
| I/D | 0.8949 | likely_pathogenic | 0.9448 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.554 | neutral | None | None | None | None | I |
| I/E | 0.8415 | likely_pathogenic | 0.9081 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | I |
| I/F | 0.2461 | likely_benign | 0.3342 | benign | -0.549 | Destabilizing | 1.0 | D | 0.576 | neutral | D | 0.550936313 | None | None | I |
| I/G | 0.9029 | likely_pathogenic | 0.9454 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | I |
| I/H | 0.8107 | likely_pathogenic | 0.8836 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | I |
| I/K | 0.7498 | likely_pathogenic | 0.8487 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | I |
| I/L | 0.2475 | likely_benign | 0.292 | benign | -0.228 | Destabilizing | 0.993 | D | 0.404 | neutral | N | 0.503620924 | None | None | I |
| I/M | 0.1769 | likely_benign | 0.2114 | benign | -0.408 | Destabilizing | 1.0 | D | 0.533 | neutral | D | 0.550936313 | None | None | I |
| I/N | 0.6221 | likely_pathogenic | 0.7416 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.50394865 | None | None | I |
| I/P | 0.9112 | likely_pathogenic | 0.953 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | I |
| I/Q | 0.7635 | likely_pathogenic | 0.8443 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | I |
| I/R | 0.5675 | likely_pathogenic | 0.707 | pathogenic | 0.26 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | I |
| I/S | 0.5232 | ambiguous | 0.6555 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.528 | neutral | N | 0.509091612 | None | None | I |
| I/T | 0.3099 | likely_benign | 0.4443 | ambiguous | -0.48 | Destabilizing | 1.0 | D | 0.56 | neutral | N | 0.504411355 | None | None | I |
| I/V | 0.1759 | likely_benign | 0.2147 | benign | -0.255 | Destabilizing | 0.993 | D | 0.347 | neutral | N | 0.515654992 | None | None | I |
| I/W | 0.8173 | likely_pathogenic | 0.8708 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | I |
| I/Y | 0.704 | likely_pathogenic | 0.7839 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.488 | 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.