Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
| N2AB | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
| N2A | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
| N2B | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
| Novex-1 | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
| Novex-2 | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
| Novex-3 | 147 | 664;665;666 | chr2:178800539;178800538;178800537 | chr2:179665266;179665265;179665264 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 1.0 | D | 0.757 | 0.586 | 0.860464115049 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.105(TCAP) | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3554 | ambiguous | 0.3485 | ambiguous | -0.532 | Destabilizing | 0.963 | D | 0.459 | neutral | D | 0.529573382 | None | -0.058(TCAP) | N |
| S/C | 0.6425 | likely_pathogenic | 0.5821 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.554775421 | None | -0.142(TCAP) | N |
| S/D | 0.8776 | likely_pathogenic | 0.8995 | pathogenic | 0.554 | Stabilizing | 0.999 | D | 0.608 | neutral | None | None | None | -0.367(TCAP) | N |
| S/E | 0.9621 | likely_pathogenic | 0.9678 | pathogenic | 0.481 | Stabilizing | 0.999 | D | 0.601 | neutral | None | None | None | -0.472(TCAP) | N |
| S/F | 0.8978 | likely_pathogenic | 0.897 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.620054099 | None | -0.105(TCAP) | N |
| S/G | 0.3417 | ambiguous | 0.359 | ambiguous | -0.663 | Destabilizing | 1.0 | D | 0.517 | neutral | None | None | None | -0.028(TCAP) | N |
| S/H | 0.8359 | likely_pathogenic | 0.8462 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | 0.471(TCAP) | N |
| S/I | 0.9128 | likely_pathogenic | 0.9067 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | -0.203(TCAP) | N |
| S/K | 0.9906 | likely_pathogenic | 0.9913 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.598 | neutral | None | None | None | -0.518(TCAP) | N |
| S/L | 0.6852 | likely_pathogenic | 0.664 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | -0.203(TCAP) | N |
| S/M | 0.856 | likely_pathogenic | 0.8414 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | 0.107(TCAP) | N |
| S/N | 0.64 | likely_pathogenic | 0.6669 | pathogenic | -0.121 | Destabilizing | 0.993 | D | 0.581 | neutral | None | None | None | -0.592(TCAP) | N |
| S/P | 0.9586 | likely_pathogenic | 0.9643 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.531838386 | None | -0.146(TCAP) | N |
| S/Q | 0.9427 | likely_pathogenic | 0.9494 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | -0.52(TCAP) | N |
| S/R | 0.9774 | likely_pathogenic | 0.9798 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | -0.566(TCAP) | N |
| S/T | 0.3058 | likely_benign | 0.3142 | benign | -0.271 | Destabilizing | 0.99 | D | 0.48 | neutral | N | 0.49164797 | None | -0.381(TCAP) | N |
| S/V | 0.8771 | likely_pathogenic | 0.8705 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | -0.146(TCAP) | N |
| S/W | 0.9389 | likely_pathogenic | 0.939 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -0.099(TCAP) | N |
| S/Y | 0.8439 | likely_pathogenic | 0.8487 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.603015501 | None | 0.124(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.