Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28464 | 85615;85616;85617 | chr2:178560742;178560741;178560740 | chr2:179425469;179425468;179425467 |
| N2AB | 26823 | 80692;80693;80694 | chr2:178560742;178560741;178560740 | chr2:179425469;179425468;179425467 |
| N2A | 25896 | 77911;77912;77913 | chr2:178560742;178560741;178560740 | chr2:179425469;179425468;179425467 |
| N2B | 19399 | 58420;58421;58422 | chr2:178560742;178560741;178560740 | chr2:179425469;179425468;179425467 |
| Novex-1 | 19524 | 58795;58796;58797 | chr2:178560742;178560741;178560740 | chr2:179425469;179425468;179425467 |
| Novex-2 | 19591 | 58996;58997;58998 | chr2:178560742;178560741;178560740 | chr2:179425469;179425468;179425467 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs1234280926  |
None | 1.0 | N | 0.772 | 0.395 | 0.374076547971 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1234280926 |
None | 1.0 | N | 0.772 | 0.395 | 0.374076547971 | gnomAD-4.0.0 | 3.71824E-06 | None | None | None | None | N | None | 6.67254E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47588E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2393 | likely_benign | 0.233 | benign | -0.745 | Destabilizing | 0.999 | D | 0.518 | neutral | N | 0.478742753 | None | None | N |
| T/C | 0.6806 | likely_pathogenic | 0.6367 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/D | 0.6127 | likely_pathogenic | 0.5611 | ambiguous | -0.666 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| T/E | 0.6364 | likely_pathogenic | 0.6186 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/F | 0.507 | ambiguous | 0.5028 | ambiguous | -0.755 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| T/G | 0.4023 | ambiguous | 0.3642 | ambiguous | -1.019 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/H | 0.4276 | ambiguous | 0.3804 | ambiguous | -1.367 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/I | 0.6365 | likely_pathogenic | 0.6271 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.508483256 | None | None | N |
| T/K | 0.3806 | ambiguous | 0.394 | ambiguous | -0.902 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/L | 0.2159 | likely_benign | 0.2172 | benign | -0.1 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/M | 0.1642 | likely_benign | 0.165 | benign | 0.275 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/N | 0.2165 | likely_benign | 0.179 | benign | -0.865 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.481145382 | None | None | N |
| T/P | 0.5478 | ambiguous | 0.5458 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.526587511 | None | None | N |
| T/Q | 0.3948 | ambiguous | 0.382 | ambiguous | -1.04 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/R | 0.2953 | likely_benign | 0.3058 | benign | -0.656 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/S | 0.1633 | likely_benign | 0.142 | benign | -1.065 | Destabilizing | 0.999 | D | 0.546 | neutral | N | 0.46891956 | None | None | N |
| T/V | 0.4801 | ambiguous | 0.465 | ambiguous | -0.282 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| T/W | 0.804 | likely_pathogenic | 0.7838 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| T/Y | 0.5051 | ambiguous | 0.4845 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.749 | deleterious | 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.