Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
| N2AB | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
| N2A | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
| N2B | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
| Novex-1 | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
| Novex-2 | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
| Novex-3 | 122 | 589;590;591 | chr2:178800614;178800613;178800612 | chr2:179665341;179665340;179665339 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | None | None | 0.193 | N | 0.632 | 0.365 | 0.337621943819 | gnomAD-4.0.0 | 1.59266E-06 | None | None | None | -0.228(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86121E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5981 | likely_pathogenic | 0.7278 | pathogenic | -0.642 | Destabilizing | 0.062 | N | 0.655 | neutral | None | None | None | -0.642(TCAP) | N |
| R/C | 0.304 | likely_benign | 0.3465 | ambiguous | -0.671 | Destabilizing | 0.002 | N | 0.516 | neutral | None | None | None | -0.69(TCAP) | N |
| R/D | 0.8826 | likely_pathogenic | 0.9309 | pathogenic | -0.017 | Destabilizing | 0.693 | D | 0.661 | neutral | None | None | None | -0.355(TCAP) | N |
| R/E | 0.5864 | likely_pathogenic | 0.6935 | pathogenic | 0.11 | Stabilizing | 0.087 | N | 0.611 | neutral | None | None | None | -0.399(TCAP) | N |
| R/F | 0.7082 | likely_pathogenic | 0.8028 | pathogenic | -0.453 | Destabilizing | 0.473 | N | 0.705 | prob.neutral | None | None | None | -0.75(TCAP) | N |
| R/G | 0.598 | likely_pathogenic | 0.7294 | pathogenic | -0.952 | Destabilizing | 0.193 | N | 0.645 | neutral | D | 0.633019675 | None | -0.558(TCAP) | N |
| R/H | 0.1533 | likely_benign | 0.1895 | benign | -1.259 | Destabilizing | 0.741 | D | 0.639 | neutral | None | None | None | -0.4(TCAP) | N |
| R/I | 0.3522 | ambiguous | 0.4423 | ambiguous | 0.187 | Stabilizing | 0.259 | N | 0.708 | prob.delet. | N | 0.515709296 | None | -0.876(TCAP) | N |
| R/K | 0.1925 | likely_benign | 0.2313 | benign | -0.72 | Destabilizing | None | N | 0.322 | neutral | N | 0.456782301 | None | -0.121(TCAP) | N |
| R/L | 0.3075 | likely_benign | 0.4027 | ambiguous | 0.187 | Stabilizing | 0.062 | N | 0.624 | neutral | None | None | None | -0.876(TCAP) | N |
| R/M | 0.471 | ambiguous | 0.5655 | pathogenic | -0.237 | Destabilizing | 0.915 | D | 0.677 | prob.neutral | None | None | None | -0.425(TCAP) | N |
| R/N | 0.7366 | likely_pathogenic | 0.8311 | pathogenic | -0.261 | Destabilizing | 0.693 | D | 0.635 | neutral | None | None | None | -0.361(TCAP) | N |
| R/P | 0.9593 | likely_pathogenic | 0.9735 | pathogenic | -0.068 | Destabilizing | 0.873 | D | 0.697 | prob.neutral | None | None | None | -0.802(TCAP) | N |
| R/Q | 0.1367 | likely_benign | 0.1823 | benign | -0.378 | Destabilizing | 0.451 | N | 0.671 | neutral | None | None | None | -0.418(TCAP) | N |
| R/S | 0.6245 | likely_pathogenic | 0.7576 | pathogenic | -0.96 | Destabilizing | 0.193 | N | 0.632 | neutral | N | 0.495411923 | None | -0.228(TCAP) | N |
| R/T | 0.3759 | ambiguous | 0.5097 | ambiguous | -0.65 | Destabilizing | 0.193 | N | 0.643 | neutral | N | 0.452318985 | None | -0.297(TCAP) | N |
| R/V | 0.4328 | ambiguous | 0.5266 | ambiguous | -0.068 | Destabilizing | 0.143 | N | 0.665 | neutral | None | None | None | -0.802(TCAP) | N |
| R/W | 0.3964 | ambiguous | 0.4996 | ambiguous | -0.151 | Destabilizing | 0.975 | D | 0.692 | prob.neutral | None | None | None | -0.616(TCAP) | N |
| R/Y | 0.5635 | ambiguous | 0.6724 | pathogenic | 0.143 | Stabilizing | 0.732 | D | 0.691 | prob.neutral | None | None | None | -0.668(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.