Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22167 | 66724;66725;66726 | chr2:178581769;178581768;178581767 | chr2:179446496;179446495;179446494 |
| N2AB | 20526 | 61801;61802;61803 | chr2:178581769;178581768;178581767 | chr2:179446496;179446495;179446494 |
| N2A | 19599 | 59020;59021;59022 | chr2:178581769;178581768;178581767 | chr2:179446496;179446495;179446494 |
| N2B | 13102 | 39529;39530;39531 | chr2:178581769;178581768;178581767 | chr2:179446496;179446495;179446494 |
| Novex-1 | 13227 | 39904;39905;39906 | chr2:178581769;178581768;178581767 | chr2:179446496;179446495;179446494 |
| Novex-2 | 13294 | 40105;40106;40107 | chr2:178581769;178581768;178581767 | chr2:179446496;179446495;179446494 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs2047803841  |
None | 1.0 | N | 0.643 | 0.46 | 0.340032825777 | gnomAD-4.0.0 | 6.8919E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17647E-05 | 0 |
| D/N | None | None | 1.0 | N | 0.638 | 0.381 | 0.278968121808 | gnomAD-4.0.0 | 1.37838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03904E-07 | 0 | 1.669E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.943 | likely_pathogenic | 0.9531 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.474482657 | None | None | N |
| D/C | 0.992 | likely_pathogenic | 0.994 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| D/E | 0.8754 | likely_pathogenic | 0.8909 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.377 | neutral | N | 0.501951911 | None | None | N |
| D/F | 0.9929 | likely_pathogenic | 0.9941 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| D/G | 0.9277 | likely_pathogenic | 0.9277 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.475990367 | None | None | N |
| D/H | 0.9631 | likely_pathogenic | 0.9722 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.489374589 | None | None | N |
| D/I | 0.9921 | likely_pathogenic | 0.9938 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/K | 0.981 | likely_pathogenic | 0.9854 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/L | 0.9819 | likely_pathogenic | 0.984 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/M | 0.9962 | likely_pathogenic | 0.9971 | pathogenic | 0.198 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| D/N | 0.6587 | likely_pathogenic | 0.669 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.466075639 | None | None | N |
| D/P | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/Q | 0.9721 | likely_pathogenic | 0.9788 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/R | 0.9758 | likely_pathogenic | 0.981 | pathogenic | 0.334 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/S | 0.8423 | likely_pathogenic | 0.8587 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/T | 0.96 | likely_pathogenic | 0.9688 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| D/V | 0.974 | likely_pathogenic | 0.979 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.489094646 | None | None | N |
| D/W | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | 0.05 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/Y | 0.9523 | likely_pathogenic | 0.9622 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | D | 0.523608089 | 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.