Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24458 | 73597;73598;73599 | chr2:178572760;178572759;178572758 | chr2:179437487;179437486;179437485 |
| N2AB | 22817 | 68674;68675;68676 | chr2:178572760;178572759;178572758 | chr2:179437487;179437486;179437485 |
| N2A | 21890 | 65893;65894;65895 | chr2:178572760;178572759;178572758 | chr2:179437487;179437486;179437485 |
| N2B | 15393 | 46402;46403;46404 | chr2:178572760;178572759;178572758 | chr2:179437487;179437486;179437485 |
| Novex-1 | 15518 | 46777;46778;46779 | chr2:178572760;178572759;178572758 | chr2:179437487;179437486;179437485 |
| Novex-2 | 15585 | 46978;46979;46980 | chr2:178572760;178572759;178572758 | chr2:179437487;179437486;179437485 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1315030705  |
-0.82 | 1.0 | D | 0.765 | 0.675 | 0.905105473476 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1315030705 |
-0.82 | 1.0 | D | 0.765 | 0.675 | 0.905105473476 | gnomAD-4.0.0 | 2.05295E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.56697E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1353783438 |
-1.548 | 1.0 | D | 0.798 | 0.677 | 0.676464442291 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs1353783438 |
-1.548 | 1.0 | D | 0.798 | 0.677 | 0.676464442291 | gnomAD-4.0.0 | 1.59182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7578 | likely_pathogenic | 0.7581 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.55513556 | None | None | N |
| P/C | 0.9893 | likely_pathogenic | 0.9893 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/G | 0.9888 | likely_pathogenic | 0.9884 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/H | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.568012802 | None | None | N |
| P/I | 0.9813 | likely_pathogenic | 0.9864 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/L | 0.9326 | likely_pathogenic | 0.942 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.562943012 | None | None | N |
| P/M | 0.9899 | likely_pathogenic | 0.9917 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/Q | 0.9932 | likely_pathogenic | 0.9938 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/R | 0.9928 | likely_pathogenic | 0.9929 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.567505823 | None | None | N |
| P/S | 0.9793 | likely_pathogenic | 0.9803 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.566998844 | None | None | N |
| P/T | 0.9654 | likely_pathogenic | 0.969 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.566998844 | None | None | N |
| P/V | 0.9456 | likely_pathogenic | 0.956 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | 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.