Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9053 | 27382;27383;27384 | chr2:178712868;178712867;178712866 | chr2:179577595;179577594;179577593 |
| N2AB | 8736 | 26431;26432;26433 | chr2:178712868;178712867;178712866 | chr2:179577595;179577594;179577593 |
| N2A | 7809 | 23650;23651;23652 | chr2:178712868;178712867;178712866 | chr2:179577595;179577594;179577593 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1462769161  |
None | 0.885 | N | 0.526 | 0.326 | 0.362361684037 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs1462769161 |
None | 0.885 | N | 0.526 | 0.326 | 0.362361684037 | gnomAD-4.0.0 | 4.10557E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39699E-06 | 0 | 0 |
| F/S | rs761745332 |
-2.225 | 0.991 | N | 0.733 | 0.383 | 0.696506860534 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| F/S | rs761745332 |
-2.225 | 0.991 | N | 0.733 | 0.383 | 0.696506860534 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/S | rs761745332 |
-2.225 | 0.991 | N | 0.733 | 0.383 | 0.696506860534 | gnomAD-4.0.0 | 1.85915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54289E-06 | 0 | 0 |
| F/Y | None | None | 0.02 | N | 0.2 | 0.147 | 0.319970858106 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79899E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.8211 | likely_pathogenic | 0.8833 | pathogenic | -2.198 | Highly Destabilizing | 0.953 | D | 0.659 | neutral | None | None | None | None | N |
| F/C | 0.5586 | ambiguous | 0.6508 | pathogenic | -1.331 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | N | 0.505742599 | None | None | N |
| F/D | 0.945 | likely_pathogenic | 0.9643 | pathogenic | -0.674 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| F/E | 0.8949 | likely_pathogenic | 0.9323 | pathogenic | -0.568 | Destabilizing | 0.993 | D | 0.763 | deleterious | None | None | None | None | N |
| F/G | 0.8881 | likely_pathogenic | 0.9226 | pathogenic | -2.531 | Highly Destabilizing | 0.993 | D | 0.733 | prob.delet. | None | None | None | None | N |
| F/H | 0.5391 | ambiguous | 0.6167 | pathogenic | -0.78 | Destabilizing | 0.986 | D | 0.738 | prob.delet. | None | None | None | None | N |
| F/I | 0.4205 | ambiguous | 0.5175 | ambiguous | -1.195 | Destabilizing | 0.982 | D | 0.627 | neutral | N | 0.469734672 | None | None | N |
| F/K | 0.777 | likely_pathogenic | 0.8512 | pathogenic | -0.987 | Destabilizing | 0.993 | D | 0.767 | deleterious | None | None | None | None | N |
| F/L | 0.8463 | likely_pathogenic | 0.884 | pathogenic | -1.195 | Destabilizing | 0.885 | D | 0.526 | neutral | N | 0.49724702 | None | None | N |
| F/M | 0.6118 | likely_pathogenic | 0.6759 | pathogenic | -1.065 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| F/N | 0.7763 | likely_pathogenic | 0.8353 | pathogenic | -0.989 | Destabilizing | 0.998 | D | 0.781 | deleterious | None | None | None | None | N |
| F/P | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.524 | Destabilizing | 0.998 | D | 0.768 | deleterious | None | None | None | None | N |
| F/Q | 0.711 | likely_pathogenic | 0.7958 | pathogenic | -1.086 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| F/R | 0.6432 | likely_pathogenic | 0.7442 | pathogenic | -0.393 | Destabilizing | 0.993 | D | 0.779 | deleterious | None | None | None | None | N |
| F/S | 0.6237 | likely_pathogenic | 0.7229 | pathogenic | -1.912 | Destabilizing | 0.991 | D | 0.733 | prob.delet. | N | 0.51539285 | None | None | N |
| F/T | 0.7745 | likely_pathogenic | 0.8411 | pathogenic | -1.717 | Destabilizing | 0.993 | D | 0.747 | deleterious | None | None | None | None | N |
| F/V | 0.4245 | ambiguous | 0.5208 | ambiguous | -1.524 | Destabilizing | 0.939 | D | 0.616 | neutral | N | 0.473190939 | None | None | N |
| F/W | 0.4823 | ambiguous | 0.5294 | ambiguous | -0.201 | Destabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| F/Y | 0.1472 | likely_benign | 0.1504 | benign | -0.4 | Destabilizing | 0.02 | N | 0.2 | neutral | N | 0.447068916 | 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.