Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7543 | 22852;22853;22854 | chr2:178722036;178722035;178722034 | chr2:179586763;179586762;179586761 |
| N2AB | 7226 | 21901;21902;21903 | chr2:178722036;178722035;178722034 | chr2:179586763;179586762;179586761 |
| N2A | 6299 | 19120;19121;19122 | chr2:178722036;178722035;178722034 | chr2:179586763;179586762;179586761 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs560272834  |
0.218 | 0.974 | N | 0.551 | 0.393 | 0.792249739881 | gnomAD-2.1.1 | 1.04575E-04 | None | None | None | None | I | None | 6.47E-05 | 6.08837E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.66E-05 | 0 |
| P/L | rs560272834 |
0.218 | 0.974 | N | 0.551 | 0.393 | 0.792249739881 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs560272834 |
0.218 | 0.974 | N | 0.551 | 0.393 | 0.792249739881 | gnomAD-4.0.0 | 3.65695E-05 | None | None | None | None | I | None | 3.99947E-05 | 4.16736E-04 | None | 0 | 0 | None | 0 | 0 | 2.2891E-05 | 0 | 6.4041E-05 |
| P/Q | None | None | 1.0 | N | 0.647 | 0.448 | 0.655368402236 | gnomAD-4.0.0 | 6.84406E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16047E-05 | 0 |
| P/T | None | None | 0.999 | N | 0.635 | 0.423 | 0.576774385015 | gnomAD-4.0.0 | 2.7376E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.64209E-05 | 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 | 0.2511 | likely_benign | 0.2369 | benign | -0.264 | Destabilizing | 0.993 | D | 0.633 | neutral | N | 0.50583287 | None | None | I |
| P/C | 0.9255 | likely_pathogenic | 0.9148 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| P/D | 0.706 | likely_pathogenic | 0.6757 | pathogenic | -0.532 | Destabilizing | 0.998 | D | 0.635 | neutral | None | None | None | None | I |
| P/E | 0.5944 | likely_pathogenic | 0.5526 | ambiguous | -0.679 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | I |
| P/F | 0.864 | likely_pathogenic | 0.8514 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| P/G | 0.6339 | likely_pathogenic | 0.6201 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| P/H | 0.5628 | ambiguous | 0.5419 | ambiguous | -0.097 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| P/I | 0.698 | likely_pathogenic | 0.6969 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| P/K | 0.7113 | likely_pathogenic | 0.6871 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| P/L | 0.3816 | ambiguous | 0.3734 | ambiguous | -0.196 | Destabilizing | 0.974 | D | 0.551 | neutral | N | 0.516492581 | None | None | I |
| P/M | 0.692 | likely_pathogenic | 0.6784 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| P/N | 0.5879 | likely_pathogenic | 0.5789 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| P/Q | 0.458 | ambiguous | 0.435 | ambiguous | -0.166 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.509102462 | None | None | I |
| P/R | 0.5478 | ambiguous | 0.5239 | ambiguous | 0.279 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.508950533 | None | None | I |
| P/S | 0.377 | ambiguous | 0.3642 | ambiguous | -0.083 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.513009559 | None | None | I |
| P/T | 0.3247 | likely_benign | 0.3165 | benign | -0.147 | Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.443629618 | None | None | I |
| P/V | 0.5259 | ambiguous | 0.5241 | ambiguous | -0.186 | Destabilizing | 0.997 | D | 0.615 | neutral | None | None | None | None | I |
| P/W | 0.9367 | likely_pathogenic | 0.9277 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| P/Y | 0.8184 | likely_pathogenic | 0.8012 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.677 | 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.