Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33351 | 100276;100277;100278 | chr2:178537058;178537057;178537056 | chr2:179401785;179401784;179401783 |
| N2AB | 31710 | 95353;95354;95355 | chr2:178537058;178537057;178537056 | chr2:179401785;179401784;179401783 |
| N2A | 30783 | 92572;92573;92574 | chr2:178537058;178537057;178537056 | chr2:179401785;179401784;179401783 |
| N2B | 24286 | 73081;73082;73083 | chr2:178537058;178537057;178537056 | chr2:179401785;179401784;179401783 |
| Novex-1 | 24411 | 73456;73457;73458 | chr2:178537058;178537057;178537056 | chr2:179401785;179401784;179401783 |
| Novex-2 | 24478 | 73657;73658;73659 | chr2:178537058;178537057;178537056 | chr2:179401785;179401784;179401783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | None | None | 0.999 | N | 0.726 | 0.425 | 0.662473173981 | gnomAD-4.0.0 | 1.59303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86067E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7565 | likely_pathogenic | 0.7849 | pathogenic | -1.269 | Destabilizing | 0.964 | D | 0.576 | neutral | None | None | None | None | N |
| C/D | 0.9925 | likely_pathogenic | 0.9954 | pathogenic | 0.186 | Stabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| C/E | 0.9928 | likely_pathogenic | 0.9963 | pathogenic | 0.329 | Stabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| C/F | 0.55 | ambiguous | 0.6469 | pathogenic | -0.768 | Destabilizing | 0.997 | D | 0.696 | prob.neutral | N | 0.442903608 | None | None | N |
| C/G | 0.6623 | likely_pathogenic | 0.7063 | pathogenic | -1.577 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | N | 0.495309163 | None | None | N |
| C/H | 0.9421 | likely_pathogenic | 0.9645 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| C/I | 0.8453 | likely_pathogenic | 0.8848 | pathogenic | -0.476 | Destabilizing | 0.971 | D | 0.604 | neutral | None | None | None | None | N |
| C/K | 0.9934 | likely_pathogenic | 0.997 | pathogenic | -0.286 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| C/L | 0.7585 | likely_pathogenic | 0.8343 | pathogenic | -0.476 | Destabilizing | 0.931 | D | 0.619 | neutral | None | None | None | None | N |
| C/M | 0.8725 | likely_pathogenic | 0.9109 | pathogenic | 0.279 | Stabilizing | 0.998 | D | 0.672 | neutral | None | None | None | None | N |
| C/N | 0.9574 | likely_pathogenic | 0.9691 | pathogenic | -0.635 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| C/P | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -0.714 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| C/Q | 0.9693 | likely_pathogenic | 0.9819 | pathogenic | -0.353 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| C/R | 0.9571 | likely_pathogenic | 0.9766 | pathogenic | -0.385 | Destabilizing | 0.999 | D | 0.815 | deleterious | N | 0.501892529 | None | None | N |
| C/S | 0.7557 | likely_pathogenic | 0.7688 | pathogenic | -1.12 | Destabilizing | 0.99 | D | 0.644 | neutral | N | 0.483534784 | None | None | N |
| C/T | 0.8481 | likely_pathogenic | 0.8735 | pathogenic | -0.775 | Destabilizing | 0.985 | D | 0.634 | neutral | None | None | None | None | N |
| C/V | 0.7327 | likely_pathogenic | 0.7772 | pathogenic | -0.714 | Destabilizing | 0.469 | N | 0.502 | neutral | None | None | None | None | N |
| C/W | 0.9158 | likely_pathogenic | 0.9458 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.483788274 | None | None | N |
| C/Y | 0.7296 | likely_pathogenic | 0.8164 | pathogenic | -0.734 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | N | 0.472626295 | 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.