Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
| N2AB | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
| N2A | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
| N2B | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
| Novex-1 | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
| Novex-2 | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
| Novex-3 | 58 | 397;398;399 | chr2:178802261;178802260;178802259 | chr2:179666988;179666987;179666986 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.009 | N | 0.352 | 0.324 | 0.317084106153 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | -1.228(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.88168E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9678 | likely_pathogenic | 0.9471 | pathogenic | -1.623 | Destabilizing | 0.907 | D | 0.739 | prob.delet. | None | None | None | -0.999(TCAP) | N |
| F/C | 0.9445 | likely_pathogenic | 0.9089 | pathogenic | -0.975 | Destabilizing | 0.998 | D | 0.803 | deleterious | N | 0.511143612 | None | -0.735(TCAP) | N |
| F/D | 0.994 | likely_pathogenic | 0.9889 | pathogenic | 0.506 | Stabilizing | 0.995 | D | 0.812 | deleterious | None | None | None | -0.849(TCAP) | N |
| F/E | 0.9943 | likely_pathogenic | 0.9898 | pathogenic | 0.564 | Stabilizing | 0.954 | D | 0.813 | deleterious | None | None | None | -0.905(TCAP) | N |
| F/G | 0.9886 | likely_pathogenic | 0.9807 | pathogenic | -1.911 | Destabilizing | 0.986 | D | 0.795 | deleterious | None | None | None | -0.918(TCAP) | N |
| F/H | 0.937 | likely_pathogenic | 0.9061 | pathogenic | -0.323 | Destabilizing | 0.996 | D | 0.747 | deleterious | None | None | None | 0.021(TCAP) | N |
| F/I | 0.776 | likely_pathogenic | 0.6819 | pathogenic | -0.803 | Destabilizing | 0.604 | D | 0.675 | prob.neutral | N | 0.505764972 | None | -1.228(TCAP) | N |
| F/K | 0.9928 | likely_pathogenic | 0.987 | pathogenic | -0.703 | Destabilizing | 0.966 | D | 0.809 | deleterious | None | None | None | -1.194(TCAP) | N |
| F/L | 0.9811 | likely_pathogenic | 0.9682 | pathogenic | -0.803 | Destabilizing | 0.009 | N | 0.352 | neutral | N | 0.497441662 | None | -1.228(TCAP) | N |
| F/M | 0.9337 | likely_pathogenic | 0.9 | pathogenic | -0.691 | Destabilizing | 0.569 | D | 0.755 | deleterious | None | None | None | -0.816(TCAP) | N |
| F/N | 0.9772 | likely_pathogenic | 0.9609 | pathogenic | -0.691 | Destabilizing | 0.995 | D | 0.813 | deleterious | None | None | None | -1.559(TCAP) | N |
| F/P | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -1.063 | Destabilizing | 0.995 | D | 0.811 | deleterious | None | None | None | -1.154(TCAP) | N |
| F/Q | 0.9857 | likely_pathogenic | 0.9759 | pathogenic | -0.692 | Destabilizing | 0.984 | D | 0.811 | deleterious | None | None | None | -1.483(TCAP) | N |
| F/R | 0.979 | likely_pathogenic | 0.9644 | pathogenic | -0.207 | Destabilizing | 0.966 | D | 0.815 | deleterious | None | None | None | -1.369(TCAP) | N |
| F/S | 0.9376 | likely_pathogenic | 0.8991 | pathogenic | -1.581 | Destabilizing | 0.981 | D | 0.788 | deleterious | N | 0.500143219 | None | -1.078(TCAP) | N |
| F/T | 0.9591 | likely_pathogenic | 0.9295 | pathogenic | -1.427 | Destabilizing | 0.971 | D | 0.765 | deleterious | None | None | None | -1.156(TCAP) | N |
| F/V | 0.7374 | likely_pathogenic | 0.6479 | pathogenic | -1.063 | Destabilizing | 0.524 | D | 0.672 | neutral | N | 0.500582795 | None | -1.154(TCAP) | N |
| F/W | 0.8485 | likely_pathogenic | 0.8029 | pathogenic | -0.141 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | -0.541(TCAP) | N |
| F/Y | 0.405 | ambiguous | 0.3441 | ambiguous | -0.288 | Destabilizing | 0.733 | D | 0.66 | neutral | N | 0.432067667 | None | -0.806(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.