Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25035 | 75328;75329;75330 | chr2:178571029;178571028;178571027 | chr2:179435756;179435755;179435754 |
| N2AB | 23394 | 70405;70406;70407 | chr2:178571029;178571028;178571027 | chr2:179435756;179435755;179435754 |
| N2A | 22467 | 67624;67625;67626 | chr2:178571029;178571028;178571027 | chr2:179435756;179435755;179435754 |
| N2B | 15970 | 48133;48134;48135 | chr2:178571029;178571028;178571027 | chr2:179435756;179435755;179435754 |
| Novex-1 | 16095 | 48508;48509;48510 | chr2:178571029;178571028;178571027 | chr2:179435756;179435755;179435754 |
| Novex-2 | 16162 | 48709;48710;48711 | chr2:178571029;178571028;178571027 | chr2:179435756;179435755;179435754 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs727503560  |
-0.776 | 1.0 | N | 0.817 | 0.565 | 0.499793596984 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/E | rs727503560 |
-0.776 | 1.0 | N | 0.817 | 0.565 | 0.499793596984 | gnomAD-4.0.0 | 9.58655E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.26028E-05 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.821 | 0.527 | 0.594397571648 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.43013E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7732 | likely_pathogenic | 0.7646 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.485999865 | None | None | I |
| G/C | 0.8655 | likely_pathogenic | 0.8489 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/D | 0.9182 | likely_pathogenic | 0.9121 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/E | 0.9488 | likely_pathogenic | 0.9441 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.516625741 | None | None | I |
| G/F | 0.9723 | likely_pathogenic | 0.9694 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.9562 | likely_pathogenic | 0.9511 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/I | 0.959 | likely_pathogenic | 0.951 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9602 | likely_pathogenic | 0.957 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/L | 0.9595 | likely_pathogenic | 0.9553 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.9724 | likely_pathogenic | 0.9684 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.8887 | likely_pathogenic | 0.8776 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/P | 0.9936 | likely_pathogenic | 0.993 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Q | 0.9396 | likely_pathogenic | 0.9336 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/R | 0.9102 | likely_pathogenic | 0.9047 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.492267289 | None | None | I |
| G/S | 0.5734 | likely_pathogenic | 0.5616 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/T | 0.8918 | likely_pathogenic | 0.8847 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/V | 0.9404 | likely_pathogenic | 0.9334 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.531602897 | None | None | I |
| G/W | 0.9629 | likely_pathogenic | 0.9585 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/Y | 0.9583 | likely_pathogenic | 0.9523 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.779 | deleterious | 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.