Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20155 | 60688;60689;60690 | chr2:178591262;178591261;178591260 | chr2:179455989;179455988;179455987 |
| N2AB | 18514 | 55765;55766;55767 | chr2:178591262;178591261;178591260 | chr2:179455989;179455988;179455987 |
| N2A | 17587 | 52984;52985;52986 | chr2:178591262;178591261;178591260 | chr2:179455989;179455988;179455987 |
| N2B | 11090 | 33493;33494;33495 | chr2:178591262;178591261;178591260 | chr2:179455989;179455988;179455987 |
| Novex-1 | 11215 | 33868;33869;33870 | chr2:178591262;178591261;178591260 | chr2:179455989;179455988;179455987 |
| Novex-2 | 11282 | 34069;34070;34071 | chr2:178591262;178591261;178591260 | chr2:179455989;179455988;179455987 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1321298157  |
None | 1.0 | D | 0.753 | 0.719 | 0.389596023526 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/H | rs1321298157 |
None | 1.0 | D | 0.753 | 0.719 | 0.389596023526 | gnomAD-4.0.0 | 6.5767E-06 | None | None | None | None | I | None | 0 | 6.55738E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | None | None | 1.0 | D | 0.763 | 0.655 | 0.290222751274 | gnomAD-4.0.0 | 3.18451E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7202E-06 | 0 | 0 |
| N/S | rs369044697 |
-0.82 | 0.999 | N | 0.603 | 0.633 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/S | rs369044697 |
-0.82 | 0.999 | N | 0.603 | 0.633 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs369044697 |
-0.82 | 0.999 | N | 0.603 | 0.633 | None | gnomAD-4.0.0 | 3.84575E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78904E-06 | 0 | 2.84592E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9789 | likely_pathogenic | 0.988 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| N/C | 0.8544 | likely_pathogenic | 0.8881 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| N/D | 0.9802 | likely_pathogenic | 0.9887 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.53612971 | None | None | I |
| N/E | 0.9972 | likely_pathogenic | 0.9983 | pathogenic | -0.951 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | I |
| N/F | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| N/G | 0.9638 | likely_pathogenic | 0.9765 | pathogenic | -0.742 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | I |
| N/H | 0.9473 | likely_pathogenic | 0.9688 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.548753463 | None | None | I |
| N/I | 0.9881 | likely_pathogenic | 0.9926 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.549006953 | None | None | I |
| N/K | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.548246484 | None | None | I |
| N/L | 0.968 | likely_pathogenic | 0.9775 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| N/M | 0.9873 | likely_pathogenic | 0.9912 | pathogenic | 0.532 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| N/P | 0.9953 | likely_pathogenic | 0.9969 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/Q | 0.9961 | likely_pathogenic | 0.9977 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| N/R | 0.9962 | likely_pathogenic | 0.9977 | pathogenic | 0.161 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| N/S | 0.4656 | ambiguous | 0.5791 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.494134302 | None | None | I |
| N/T | 0.862 | likely_pathogenic | 0.909 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | D | 0.52963525 | None | None | I |
| N/V | 0.9751 | likely_pathogenic | 0.9842 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| N/Y | 0.9911 | likely_pathogenic | 0.9947 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.548753463 | 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.